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rs797045962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045962(-;C)
Make rs797045962(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position74529434
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs797045962
dbSNP (classic)rs797045962
ClinGenrs797045962
ebirs797045962
HLIrs797045962
Exacrs797045962
Gnomadrs797045962
Varsomers797045962
LitVarrs797045962
Maprs797045962
PheGenIrs797045962
Biobankrs797045962
1000 genomesrs797045962
hgdprs797045962
ensemblrs797045962
geneviewrs797045962
scholarrs797045962
googlers797045962
pharmgkbrs797045962
gwascentralrs797045962
openSNPrs797045962
23andMers797045962
SNPshotrs797045962
SNPdbers797045962
MSV3drs797045962
GWAS Ctlgrs797045962
Max Magnitude0
ClinVar
Risk rs797045962(C;C)
Alt rs797045962(C;C)
Reference Rs797045962(-;-)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73749269dupC
CLNSRC
CLNACC RCV000192887.1,