Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1170466474
rs1170466474
SMN1 ; SMN2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1421405659
rs1421405659
MYBPC1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554699491
rs1554699491
AGTPBP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555727493
rs1555727493
KMT2B
TGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR

dbSNP: rs727502818
rs727502818
KCNC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs780631499
rs780631499
AGTPBP1
C 0.700 CausalMutation CLINVAR