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rs879253764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253764(G;T)
Make rs879253764(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position22408352
GeneSLC39A14
is asnp
is mentioned by
dbSNPrs879253764
dbSNP (classic)rs879253764
ClinGenrs879253764
ebirs879253764
HLIrs879253764
Exacrs879253764
Gnomadrs879253764
Varsomers879253764
LitVarrs879253764
Maprs879253764
PheGenIrs879253764
Biobankrs879253764
1000 genomesrs879253764
hgdprs879253764
ensemblrs879253764
geneviewrs879253764
scholarrs879253764
googlers879253764
pharmgkbrs879253764
gwascentralrs879253764
openSNPrs879253764
23andMers879253764
SNPshotrs879253764
SNPdbers879253764
MSV3drs879253764
GWAS Ctlgrs879253764
Max Magnitude0
ClinVar
Risk rs879253764(T;T)
Alt rs879253764(T;T)
Reference Rs879253764(G;G)
Significance Pathogenic
Disease Hypermanganesemia with dystonia 2
Variation info
Gene SLC39A14
CLNDBN Hypermanganesemia with dystonia 2
Reversed 0
HGVS NC_000008.10:g.22265865G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000234923.2,