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rs119482084

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119482084(C;C)
Make rs119482084(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position92038342
GeneSPTLC1
is asnp
is mentioned by
dbSNPrs119482084
ebirs119482084
HLIrs119482084
Exacrs119482084
Varsomers119482084
Maprs119482084
PheGenIrs119482084
hapmaprs119482084
1000 genomesrs119482084
hgdprs119482084
ensemblrs119482084
gopubmedrs119482084
geneviewrs119482084
scholarrs119482084
googlers119482084
pharmgkbrs119482084
gwascentralrs119482084
openSNPrs119482084
23andMers119482084
23andMe allrs119482084
SNP Nexus

SNPshotrs119482084
SNPdbers119482084
MSV3drs119482084
GWAS Ctlgrs119482084
GMAF0.0009183
Max Magnitude0
OMIM605712
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119482084(A,C;A,C)
Alt rs119482084(A,C;A,C)
Reference rs119482084(G;G)
Significance Pathogenic
Disease Neuropathy hereditary sensory and autonomic type 1 not specified
Variation info
Gene SPTLC1
CLNDBN Neuropathy hereditary sensory and autonomic type 1 not specified
Reversed 1
HGVS NC_000009.11:g.94800624C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005069.2, RCV000216582.1,