Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690789
rs1131690789
RBM10
C 0.700 CausalMutation CLINVAR

dbSNP: rs1281877795
rs1281877795
MTIF2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553535063
rs1553535063
NDUFB3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553878198
rs1553878198
RBPJ
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555605893
rs1555605893
SMARCE1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555918056
rs1555918056
BCOR
A 0.700 CausalMutation CLINVAR

dbSNP: rs1557189252
rs1557189252
FGD1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1563183469
rs1563183469
AUTS2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs779617179
rs779617179
NRP2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554396271
rs1554396271
COL1A2
A 0.700 CausalMutation CLINVAR Genetic heterogeneity in osteogenesis imperfecta. 458828

1979
dbSNP: rs72658127
rs72658127
COL1A2
G 0.700 CausalMutation CLINVAR Genetic heterogeneity in osteogenesis imperfecta. 458828

1979
dbSNP: rs797044915
rs797044915
COL11A2
A 0.700 GeneticVariation CLINVAR The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. 813535

1975
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR Parastremmatic dwarfism. 956253

1976
dbSNP: rs267607144
rs267607144
TRPV4
T 0.700 CausalMutation CLINVAR Parastremmatic dwarfism. 956253

1976
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs122445110
rs122445110
ATRX
G 0.700 GeneticVariation CLINVAR X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 1415255

1992
dbSNP: rs1557082399
rs1557082399
ATRX
T 0.700 CausalMutation CLINVAR X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 1415255

1992
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. 1423634

1992
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992
dbSNP: rs1555205335
rs1555205335
TRPV4
C 0.700 CausalMutation CLINVAR A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. 1520078

1992