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: rs1032242817
rs1032242817
DHCR7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503383
rs1060503383
SYNGAP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918467
rs121918467
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1223073957
rs1223073957
MED25
A 0.700 CausalMutation CLINVAR

dbSNP: rs138659167
rs138659167
DHCR7
G 0.700 CausalMutation CLINVAR

dbSNP: rs1557036768
rs1557036768
HUWE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs180177035
rs180177035
BRAF
C 0.700 CausalMutation CLINVAR

dbSNP: rs180177039
rs180177039
BRAF
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397517077
rs397517077
CBL
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587784177
rs587784177
NSD1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587784177
rs587784177
NSD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs727503109
rs727503109
KRAS
C 0.700 CausalMutation CLINVAR

dbSNP: rs776291104
rs776291104
MED25
T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052571
rs796052571
GRIN2B ; LOC105369668
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR