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rs119482083

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119482083(A;A)
Make rs119482083(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position92068095
GeneSPTLC1
is asnp
is mentioned by
dbSNPrs119482083
ebirs119482083
HLIrs119482083
Exacrs119482083
Varsomers119482083
Maprs119482083
PheGenIrs119482083
hapmaprs119482083
1000 genomesrs119482083
hgdprs119482083
ensemblrs119482083
gopubmedrs119482083
geneviewrs119482083
scholarrs119482083
googlers119482083
pharmgkbrs119482083
gwascentralrs119482083
openSNPrs119482083
23andMers119482083
23andMe allrs119482083
SNP Nexus

SNPshotrs119482083
SNPdbers119482083
MSV3drs119482083
GWAS Ctlgrs119482083
Max Magnitude0
OMIM605712
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119482083(A;A)
Alt rs119482083(A;A)
Reference rs119482083(T;T)
Significance Pathogenic
Disease Neuropathy hereditary sensory and autonomic type 1 not provided
Variation info
Gene SPTLC1
CLNDBN Neuropathy hereditary sensory and autonomic type 1 not provided
Reversed 1
HGVS NC_000009.11:g.94830377A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005068.2, RCV000235837.1,