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rs119482082

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119482082(G;G)
Make rs119482082(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position92080044
GeneSPTLC1
is asnp
is mentioned by
dbSNPrs119482082
ebirs119482082
HLIrs119482082
Exacrs119482082
Varsomers119482082
Maprs119482082
PheGenIrs119482082
hapmaprs119482082
1000 genomesrs119482082
hgdprs119482082
ensemblrs119482082
gopubmedrs119482082
geneviewrs119482082
scholarrs119482082
googlers119482082
pharmgkbrs119482082
gwascentralrs119482082
openSNPrs119482082
23andMers119482082
23andMe allrs119482082
SNP Nexus

SNPshotrs119482082
SNPdbers119482082
MSV3drs119482082
GWAS Ctlgrs119482082
Max Magnitude0
OMIM605712
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119482082(G;G)
Alt rs119482082(G;G)
Reference rs119482082(T;T)
Significance Pathogenic
Disease Neuropathy hereditary sensory and autonomic type 1
Variation info
Gene SPTLC1
CLNDBN Neuropathy hereditary sensory and autonomic type 1
Reversed 1
HGVS NC_000009.11:g.94842326A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005070.2,