Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555817157
rs1555817157
ABHD12
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018
dbSNP: rs1043679457
rs1043679457
ERCC8
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519561
rs1057519561
SNX14
GAAAAAAAAAAA 0.700 CausalMutation CLINVAR

dbSNP: rs142433332
rs142433332
DARS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553201258
rs1553201258
DARS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553281318
rs1553281318
COQ8A
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1554768245
rs1554768245
SYNE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555475794
rs1555475794
STUB1 ; JMJD8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555630216
rs1555630216
PIEZO2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555648288
rs1555648288
PIEZO2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs387906686
rs387906686
SCN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 CausalMutation CLINVAR

dbSNP: rs727502818
rs727502818
KCNC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs730882209
rs730882209
SETX
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs774277300
rs774277300
MRE11
A 0.700 CausalMutation CLINVAR

dbSNP: rs774694340
rs774694340
SNX14
T 0.700 CausalMutation CLINVAR