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rs149782619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149782619(C;G)
Make rs149782619(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position131165096
GeneHINT1
is asnp
is mentioned by
dbSNPrs149782619
ebirs149782619
HLIrs149782619
Exacrs149782619
Varsomers149782619
Maprs149782619
PheGenIrs149782619
hapmaprs149782619
1000 genomesrs149782619
hgdprs149782619
ensemblrs149782619
gopubmedrs149782619
geneviewrs149782619
scholarrs149782619
googlers149782619
pharmgkbrs149782619
gwascentralrs149782619
openSNPrs149782619
23andMers149782619
23andMe allrs149782619
SNP Nexus

SNPshotrs149782619
SNPdbers149782619
MSV3drs149782619
GWAS Ctlgrs149782619
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs149782619(G;G)
Alt rs149782619(G;G)
Reference rs149782619(C;C)
Significance Pathogenic
Disease Neuromyotonia and axonal neuropathy not provided
Variation info
Gene HINT1
CLNDBN Neuromyotonia and axonal neuropathy, autosomal recessive not provided
Reversed 0
HGVS NC_000005.9:g.130500789C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030852.2, RCV000235535.1,