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rs267607091

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607091(A;T)
Make rs267607091(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77518097
GeneSPTLC2
is asnp
is mentioned by
dbSNPrs267607091
ebirs267607091
HLIrs267607091
Exacrs267607091
Varsomers267607091
Maprs267607091
PheGenIrs267607091
hapmaprs267607091
1000 genomesrs267607091
hgdprs267607091
ensemblrs267607091
gopubmedrs267607091
geneviewrs267607091
scholarrs267607091
googlers267607091
pharmgkbrs267607091
gwascentralrs267607091
openSNPrs267607091
23andMers267607091
23andMe allrs267607091
SNP Nexus

SNPshotrs267607091
SNPdbers267607091
MSV3drs267607091
GWAS Ctlgrs267607091
Max Magnitude0
ClinVar
Risk rs267607091(T;T)
Alt rs267607091(T;T)
Reference rs267607091(A;A)
Significance Pathogenic
Disease NEUROPATHY
Variation info
Gene SPTLC2
CLNDBN NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
Reversed 1
HGVS NC_000014.8:g.77984440T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005066.2,