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rs267607089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607089(G;T)
Make rs267607089(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77555331
GeneSPTLC2
is asnp
is mentioned by
dbSNPrs267607089
ebirs267607089
HLIrs267607089
Exacrs267607089
Varsomers267607089
Maprs267607089
PheGenIrs267607089
hapmaprs267607089
1000 genomesrs267607089
hgdprs267607089
ensemblrs267607089
gopubmedrs267607089
geneviewrs267607089
scholarrs267607089
googlers267607089
pharmgkbrs267607089
gwascentralrs267607089
openSNPrs267607089
23andMers267607089
23andMe allrs267607089
SNP Nexus

SNPshotrs267607089
SNPdbers267607089
MSV3drs267607089
GWAS Ctlgrs267607089
Max Magnitude0
ClinVar
Risk rs267607089(T;T)
Alt rs267607089(T;T)
Reference rs267607089(G;G)
Significance Pathogenic
Disease NEUROPATHY
Variation info
Gene SPTLC2
CLNDBN NEUROPATHY, HEREDITARY SENSORY, TYPE IC
Reversed 1
HGVS NC_000014.8:g.78021674C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005064.2,