Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:

Currentness:

(See the latest version)

DCHS2 V153A

(DCHS2 Val153Ala)

You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

G @ chr4:155295076: 36.1% (3880/10758) in EVS
G @ chr4:155514525: 43.7% (55/126) in GET-Evidence
Frequency shown in summary reports: 36.1% (3880/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs11721758
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PolyPhen-2

Score: 0.227 (possibly damaging)

Other in silico analyses

NBLOSUM100 score = 2
GET-Evidence autoscore = 0

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D05 from PGP sample 1205491 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_H01 from PGP sample 94797469 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D03 from PGP sample 27486199 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_A04 from PGP sample 13272228 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_G02 from PGP sample 67180598 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Jun 23 2011 Genome Importing Robot removed [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA18555] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 23 2011 Genome Importing Robot removed [NA12156] view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed J. Craig Venter view
Jun 22 2011 Genome Importing Robot removed D#kgao view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Jun 22 2011 Genome Importing Robot removed !Ai view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Mar 29 2011 Genome Importing Robot added var-GS20509-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19834-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19735-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19670-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18558-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06994-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18501-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS12004-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Dec 6 2010 Genome Importing Robot removed CGI sample GS00253-DNA_D01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_C01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
May 8 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Feb 27 2010 Genome Importing Robot added D#kgao view
Feb 27 2010 Genome Importing Robot added !Ai view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Feb 26 2010 Genome Importing Robot added [NA12156] view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added J. Craig Venter view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

DCHS2 V153A - GET-Evidence