GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TGFB1 L10Pinsufficiently evaluated pharmacogeneticunknown

(266 web hits)

TGFB1 P10Linsufficiently evaluated none, f=0.648unknown

(15 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
hu34D5B9 exome (hom)
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS18947-1100-36-ASM (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
TGFB1 R25Puncertain pathogenic, f=0.049other

This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension.

(79 web hits)

var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_F06 from PGP sample 64191565
TGFB1 Y81Hinsufficiently evaluated pathogenicunknown

(15 web hits)

TGFB1 R218Cinsufficiently evaluated pathogenicunknown

(41 web hits)

TGFB1 R218Hinsufficiently evaluated pathogenicunknown

(29 web hits)

TGFB1 C223Ginsufficiently evaluated pathogenicunknown

(5 web hits)

TGFB1 C223Rinsufficiently evaluated pathogenicunknown

(5 web hits)

TGFB1 C225Rinsufficiently evaluated pathogenicunknown

(21 web hits)

TGFB1 T263Iuncertain protective, f=0.021dominant

Carriers may be less likely to have cleft lip and palate congenital deformity.

(49 web hits)

hu232307 build 36 substitution variants
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
TGFB1I1 Q112Hinsufficiently evaluated noneunknown
TGFB1I1 Q129Hinsufficiently evaluated none, f=0.031unknown var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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