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rs113994162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994162(C;T)
Make rs113994162(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74421996
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs113994162
ebirs113994162
HLIrs113994162
Exacrs113994162
Varsomers113994162
Maprs113994162
PheGenIrs113994162
hapmaprs113994162
1000 genomesrs113994162
hgdprs113994162
ensemblrs113994162
gopubmedrs113994162
geneviewrs113994162
scholarrs113994162
googlers113994162
pharmgkbrs113994162
gwascentralrs113994162
openSNPrs113994162
23andMers113994162
23andMe allrs113994162
SNP Nexus

SNPshotrs113994162
SNPdbers113994162
MSV3drs113994162
GWAS Ctlgrs113994162
Max Magnitude0
ClinVar
Risk rs113994162(T;T)
Alt rs113994162(T;T)
Reference rs113994162(C;C)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73641831C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020651.1,


OMIM300523
Desc
Variant
Relatedalso