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rs864621998

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864621998(C;C)
Make rs864621998(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position77576854
GeneSPTLC2
is asnp
is mentioned by
dbSNPrs864621998
ebirs864621998
HLIrs864621998
Exacrs864621998
Varsomers864621998
Maprs864621998
PheGenIrs864621998
hapmaprs864621998
1000 genomesrs864621998
hgdprs864621998
ensemblrs864621998
gopubmedrs864621998
geneviewrs864621998
scholarrs864621998
googlers864621998
pharmgkbrs864621998
gwascentralrs864621998
openSNPrs864621998
23andMers864621998
23andMe allrs864621998
SNP Nexus

SNPshotrs864621998
SNPdbers864621998
MSV3drs864621998
GWAS Ctlgrs864621998
Max Magnitude0
ClinVar
Risk rs864621998(C;C)
Alt rs864621998(C;C)
Reference rs864621998(G;G)
Significance Pathogenic
Disease Hereditary sensory and autonomic neuropathy type IC
Variation info
Gene SPTLC2
CLNDBN Hereditary sensory and autonomic neuropathy type IC
Reversed 1
HGVS NC_000014.8:g.78043197C>G
CLNSRC
CLNACC RCV000206999.1,