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rs879253763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879253763(G;G)
Make rs879253763(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position22408331
GeneSLC39A14
is asnp
is mentioned by
dbSNPrs879253763
dbSNP (classic)rs879253763
ClinGenrs879253763
ebirs879253763
HLIrs879253763
Exacrs879253763
Gnomadrs879253763
Varsomers879253763
LitVarrs879253763
Maprs879253763
PheGenIrs879253763
Biobankrs879253763
1000 genomesrs879253763
hgdprs879253763
ensemblrs879253763
geneviewrs879253763
scholarrs879253763
googlers879253763
pharmgkbrs879253763
gwascentralrs879253763
openSNPrs879253763
23andMers879253763
SNPshotrs879253763
SNPdbers879253763
MSV3drs879253763
GWAS Ctlgrs879253763
Max Magnitude0
ClinVar
Risk rs879253763(G;G)
Alt rs879253763(G;G)
Reference Rs879253763(T;T)
Significance Pathogenic
Disease Hypermanganesemia with dystonia 2
Variation info
Gene SLC39A14
CLNDBN Hypermanganesemia with dystonia 2
Reversed 0
HGVS NC_000008.10:g.22265844T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000234926.1,