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rs397518474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518474(C;T)
Make rs397518474(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position28265707
GeneHERC2
is asnp
is mentioned by
dbSNPrs397518474
ebirs397518474
HLIrs397518474
Exacrs397518474
Varsomers397518474
Maprs397518474
PheGenIrs397518474
hapmaprs397518474
1000 genomesrs397518474
hgdprs397518474
ensemblrs397518474
gopubmedrs397518474
geneviewrs397518474
scholarrs397518474
googlers397518474
pharmgkbrs397518474
gwascentralrs397518474
openSNPrs397518474
23andMers397518474
23andMe allrs397518474
SNP Nexus

SNPshotrs397518474
SNPdbers397518474
MSV3drs397518474
GWAS Ctlgrs397518474
Max Magnitude0
ClinVar
Risk rs397518474(T;T)
Alt rs397518474(T;T)
Reference rs397518474(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene HERC2
CLNDBN Mental retardation, autosomal recessive 38
Reversed 1
HGVS NC_000015.9:g.28510853G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074397.3,