Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs786200952
rs786200952
KAT6A
CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015
dbSNP: rs1057519925
rs1057519925
PIK3CA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057520900
rs1057520900
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308040
rs1085308040
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308053
rs1085308053
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555459345
rs1555459345
PKD1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs387906819
rs387906819
GATA6
A 0.700 CausalMutation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776667
rs587776667
PTEN
C 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913499
rs121913499
IDH1
0.020 GeneticVariation BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734

2013
dbSNP: rs121913499
rs121913499
IDH1
0.020 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs1057519853
rs1057519853
GNAQ
0.010 GeneticVariation BEFREE Somatic GNAQ mutations (c.626A > T; p.Gln209Leu) were found in 100% (6 of 6) of the solitary choroidal hemangiomas and (c.626A > C; p.Gln209Pro) in the choroidal nevus. 30537484

2019
dbSNP: rs121913492
rs121913492
GNAQ
0.010 GeneticVariation BEFREE Somatic GNAQ mutations (c.626A > T; p.Gln209Leu) were found in 100% (6 of 6) of the solitary choroidal hemangiomas and (c.626A > C; p.Gln209Pro) in the choroidal nevus. 30537484

2019
dbSNP: rs1057519736
rs1057519736
IDH2
0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs118101777
rs118101777
IDH2
0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs121913500
rs121913500
IDH1
0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs121913500
rs121913500
IDH1
0.010 GeneticVariation BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234

2011
dbSNP: rs752907384
rs752907384
VEGFA
0.010 GeneticVariation BEFREE In this matched cohort study, VHL 598C>T homozygosity was associated with vertebral hemangiomas, varicose veins, lower blood pressures, and elevated serum vascular endothelial growth factor (VEGF) concentrations (P <.0005), as well as premature mortality related to cerebral vascular events and peripheral thrombosis. 14726398

2004
dbSNP: rs121917766
rs121917766
KDR
0.010 GeneticVariation BEFREE Mutations were found in two of the 15 hemangioma specimens: a missense mutation (P1147S) in the kinase domain of the VEGFR2 (FLK1/KDR) gene in one specimen and a missense mutation (P954S) in the kinase insert of the VEGFR3 (FLT4) gene in another specimen. 11807987

2002