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rs104894931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894931(C;C)
Make rs104894931(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74529355
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs104894931
ebirs104894931
HLIrs104894931
Exacrs104894931
Varsomers104894931
Maprs104894931
PheGenIrs104894931
hapmaprs104894931
1000 genomesrs104894931
hgdprs104894931
ensemblrs104894931
gopubmedrs104894931
geneviewrs104894931
scholarrs104894931
googlers104894931
pharmgkbrs104894931
gwascentralrs104894931
openSNPrs104894931
23andMers104894931
23andMe allrs104894931
SNP Nexus

SNPshotrs104894931
SNPdbers104894931
MSV3drs104894931
GWAS Ctlgrs104894931
Max Magnitude0
OMIM300095
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894931(C;C)
Alt rs104894931(C;C)
Reference rs104894931(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.73749190T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012398.22,