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rs267607090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607090(A;A)
Make rs267607090(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position77555401
GeneSPTLC2
is asnp
is mentioned by
dbSNPrs267607090
ebirs267607090
HLIrs267607090
Exacrs267607090
Varsomers267607090
Maprs267607090
PheGenIrs267607090
hapmaprs267607090
1000 genomesrs267607090
hgdprs267607090
ensemblrs267607090
gopubmedrs267607090
geneviewrs267607090
scholarrs267607090
googlers267607090
pharmgkbrs267607090
gwascentralrs267607090
openSNPrs267607090
23andMers267607090
23andMe allrs267607090
SNP Nexus

SNPshotrs267607090
SNPdbers267607090
MSV3drs267607090
GWAS Ctlgrs267607090
Max Magnitude0
ClinVar
Risk rs267607090(A;A)
Alt rs267607090(A;A)
Reference rs267607090(G;G)
Significance Pathogenic
Disease NEUROPATHY
Variation info
Gene SPTLC2
CLNDBN NEUROPATHY, HEREDITARY SENSORY, TYPE IC
Reversed 1
HGVS NC_000014.8:g.78021744C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005065.2,