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rs483352920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs483352920(C;C)
Make rs483352920(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38894936
GeneSCN11A
is asnp
is mentioned by
dbSNPrs483352920
dbSNP (classic)rs483352920
ClinGenrs483352920
ebirs483352920
HLIrs483352920
Exacrs483352920
Gnomadrs483352920
Varsomers483352920
LitVarrs483352920
Maprs483352920
PheGenIrs483352920
Biobankrs483352920
1000 genomesrs483352920
hgdprs483352920
ensemblrs483352920
geneviewrs483352920
scholarrs483352920
googlers483352920
pharmgkbrs483352920
gwascentralrs483352920
openSNPrs483352920
23andMers483352920
SNPshotrs483352920
SNPdbers483352920
MSV3drs483352920
GWAS Ctlgrs483352920
Max Magnitude0
ClinVar
Risk rs483352920(C;C)
Alt rs483352920(C;C)
Reference Rs483352920(T;T)
Significance Pathogenic
Disease Neuropathy
Variation info
Gene SCN11A
CLNDBN Neuropathy, hereditary sensory and autonomic, type VII
Reversed 1
HGVS NC_000003.11:g.38936427A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074494.3,