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rs104894938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894938(C;C)
Make rs104894938(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74531414
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs104894938
ClinGenrs104894938
ebirs104894938
HLIrs104894938
Exacrs104894938
Varsomers104894938
Maprs104894938
PheGenIrs104894938
hapmaprs104894938
1000 genomesrs104894938
hgdprs104894938
ensemblrs104894938
gopubmedrs104894938
geneviewrs104894938
scholarrs104894938
googlers104894938
pharmgkbrs104894938
gwascentralrs104894938
openSNPrs104894938
23andMers104894938
23andMe allrs104894938
SNP Nexus

SNPshotrs104894938
SNPdbers104894938
MSV3drs104894938
GWAS Ctlgrs104894938
Max Magnitude0
OMIM300095
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894938(C;C)
Alt rs104894938(C;C)
Reference Rs104894938(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.73751249T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012404.16,