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rs267607087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607087(C;T)
Make rs267607087(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position92047261
GeneSPTLC1
is asnp
is mentioned by
dbSNPrs267607087
ebirs267607087
HLIrs267607087
Exacrs267607087
Varsomers267607087
Maprs267607087
PheGenIrs267607087
hapmaprs267607087
1000 genomesrs267607087
hgdprs267607087
ensemblrs267607087
gopubmedrs267607087
geneviewrs267607087
scholarrs267607087
googlers267607087
pharmgkbrs267607087
gwascentralrs267607087
openSNPrs267607087
23andMers267607087
23andMe allrs267607087
SNP Nexus

SNPshotrs267607087
SNPdbers267607087
MSV3drs267607087
GWAS Ctlgrs267607087
Max Magnitude0
ClinVar
Risk rs267607087(T;T)
Alt rs267607087(T;T)
Reference rs267607087(C;C)
Significance Pathogenic
Disease Neuropathy
Variation info
Gene SPTLC1
CLNDBN Neuropathy, hereditary sensory and autonomic, type I, severe
Reversed 1
HGVS NC_000009.11:g.94809543G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005071.2,