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rs104894939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894939(G;G)
Make rs104894939(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74525802
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs104894939
ebirs104894939
HLIrs104894939
Exacrs104894939
Varsomers104894939
Maprs104894939
PheGenIrs104894939
hapmaprs104894939
1000 genomesrs104894939
hgdprs104894939
ensemblrs104894939
gopubmedrs104894939
geneviewrs104894939
scholarrs104894939
googlers104894939
pharmgkbrs104894939
gwascentralrs104894939
openSNPrs104894939
23andMers104894939
23andMe allrs104894939
SNP Nexus

SNPshotrs104894939
SNPdbers104894939
MSV3drs104894939
GWAS Ctlgrs104894939
Max Magnitude0
OMIM300095
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894939(G;G)
Alt rs104894939(G;G)
Reference rs104894939(T;T)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73745637T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012405.24,