Have questions? Visit https://www.reddit.com/r/SNPedia

rs267607088

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607088(C;T)
Make rs267607088(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position92047198
GeneSPTLC1
is asnp
is mentioned by
dbSNPrs267607088
ebirs267607088
HLIrs267607088
Exacrs267607088
Varsomers267607088
Maprs267607088
PheGenIrs267607088
hapmaprs267607088
1000 genomesrs267607088
hgdprs267607088
ensemblrs267607088
gopubmedrs267607088
geneviewrs267607088
scholarrs267607088
googlers267607088
pharmgkbrs267607088
gwascentralrs267607088
openSNPrs267607088
23andMers267607088
23andMe allrs267607088
SNP Nexus

SNPshotrs267607088
SNPdbers267607088
MSV3drs267607088
GWAS Ctlgrs267607088
Max Magnitude0
ClinVar
Risk rs267607088(T;T)
Alt rs267607088(T;T)
Reference rs267607088(C;C)
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.94809480G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005072.2,