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rs373849532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373849532(G;T)
Make rs373849532(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position131159494
GeneHINT1
is asnp
is mentioned by
dbSNPrs373849532
ebirs373849532
HLIrs373849532
Exacrs373849532
Varsomers373849532
Maprs373849532
PheGenIrs373849532
hapmaprs373849532
1000 genomesrs373849532
hgdprs373849532
ensemblrs373849532
gopubmedrs373849532
geneviewrs373849532
scholarrs373849532
googlers373849532
pharmgkbrs373849532
gwascentralrs373849532
openSNPrs373849532
23andMers373849532
23andMe allrs373849532
SNP Nexus

SNPshotrs373849532
SNPdbers373849532
MSV3drs373849532
GWAS Ctlgrs373849532
Max Magnitude0
ClinVar
Risk rs373849532(T;T)
Alt rs373849532(T;T)
Reference rs373849532(G;G)
Significance Pathogenic
Disease Neuromyotonia and axonal neuropathy
Variation info
Gene HINT1
CLNDBN Neuromyotonia and axonal neuropathy, autosomal recessive
Reversed 0
HGVS NC_000005.9:g.130495187G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030855.2,