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rs113994166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994166(-;-)
Make rs113994166(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74531545
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs113994166
ebirs113994166
HLIrs113994166
Exacrs113994166
Varsomers113994166
Maprs113994166
PheGenIrs113994166
hapmaprs113994166
1000 genomesrs113994166
hgdprs113994166
ensemblrs113994166
gopubmedrs113994166
geneviewrs113994166
scholarrs113994166
googlers113994166
pharmgkbrs113994166
gwascentralrs113994166
openSNPrs113994166
23andMers113994166
23andMe allrs113994166
SNP Nexus

SNPshotrs113994166
SNPdbers113994166
MSV3drs113994166
GWAS Ctlgrs113994166
Max Magnitude0
OMIM300095
Desc
Variant0011
Relatedalso
ClinVar
Risk rs113994166(;)
Alt rs113994166(;)
Reference rs113994166(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.73751380delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012408.16,