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rs104894940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894940(A;A)
Make rs104894940(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74525844
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs104894940
ebirs104894940
HLIrs104894940
Exacrs104894940
Varsomers104894940
Maprs104894940
PheGenIrs104894940
hapmaprs104894940
1000 genomesrs104894940
hgdprs104894940
ensemblrs104894940
gopubmedrs104894940
geneviewrs104894940
scholarrs104894940
googlers104894940
pharmgkbrs104894940
gwascentralrs104894940
openSNPrs104894940
23andMers104894940
23andMe allrs104894940
SNP Nexus

SNPshotrs104894940
SNPdbers104894940
MSV3drs104894940
GWAS Ctlgrs104894940
Max Magnitude0
OMIM300095
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894940(A;A)
Alt rs104894940(A;A)
Reference rs104894940(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.73745679C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012406.22,