GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
VDR M1Rinsufficiently evaluated benignunknown

Association with higher bone mineral density

(341 web hits)

VDR M1Tinsufficiently evaluated pharmacogenetic, f=0.676unknown

(429 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
VDR R18Qinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19239-1100-36-ASM
VDR R30Xinsufficiently evaluated pathogenicunknown

(14 web hits)

VDR G33Dinsufficiently evaluated pathogenicunknown

(1 web hit)

VDR G46Dinsufficiently evaluated pathogenicunknown

(8 web hits)

VDR R47Qinsufficiently evaluated pathogenicunknown

(2 web hits)

VDR R73Qinsufficiently evaluated pathogenicunknown

(4 web hits)

VDR R77Qinsufficiently evaluated pathogenicunknown

(4 web hits)

VDR SD148CQinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
VDR Q149Xinsufficiently evaluated pathogenicunknown

(11 web hits)

VDR P155Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
VDR K240Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
var-GS19026-1100-36-ASM
VDR E269Ginsufficiently evaluated not reviewedunknown

(4 web hits)

VDR R271Linsufficiently evaluated pathogenicunknown

(13 web hits)

VDR Y292Xinsufficiently evaluated pathogenicunknown

(9 web hits)

VDR V297Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
VDR H305Qinsufficiently evaluated pathogenicunknown

(61 web hits)

VDR I314Sinsufficiently evaluated pathogenicunknown

(57 web hits)

VDR E329Kinsufficiently evaluated pathogenicunknown

(5 web hits)

VDR R358Hinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B02_200_37
VDR I367Minsufficiently evaluated noneunknown
VDR R368Ginsufficiently evaluated noneunknown

(1 web hit)

VDR R391Cinsufficiently evaluated pathogenicunknown

(63 web hits)

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Total results: 24

Gene search

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