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rs797045071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045071(C;C)
Make rs797045071(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position92047181
GeneSPTLC1
is asnp
is mentioned by
dbSNPrs797045071
dbSNP (old)rs797045071
ClinGenrs797045071
ebirs797045071
HLIrs797045071
Exacrs797045071
Gnomadrs797045071
Varsomers797045071
Maprs797045071
PheGenIrs797045071
Biobankrs797045071
1000 genomesrs797045071
hgdprs797045071
ensemblrs797045071
gopubmedrs797045071
geneviewrs797045071
scholarrs797045071
googlers797045071
pharmgkbrs797045071
gwascentralrs797045071
openSNPrs797045071
23andMers797045071
23andMe allrs797045071
SNP Nexus

SNPshotrs797045071
SNPdbers797045071
MSV3drs797045071
GWAS Ctlgrs797045071
Max Magnitude0
ClinVar
Risk rs797045071(C;C)
Alt rs797045071(C;C)
Reference Rs797045071(G;G)
Significance Probable-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.94809463C>G
CLNSRC Baylor College of Medicine
CLNACC RCV000191132.1,