Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167445
rs1114167445
SPTBN4
T 0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017
dbSNP: rs1561498701
rs1561498701
SMN1 ; SMN2
AGGATTCCG 0.700 CausalMutation CLINVAR A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. 24498607

2013
dbSNP: rs1160978570
rs1160978570
IGHMBP2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs146539065
rs146539065
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs34757931
rs34757931
VPS11
G 0.700 CausalMutation CLINVAR

dbSNP: rs776969714
rs776969714
SEPSECS
GC 0.700 CausalMutation CLINVAR

dbSNP: rs863224880
rs863224880
IGHMBP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CTG 0.700 GeneticVariation CLINVAR