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rs879253765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs879253765(-;-)
Make rs879253765(-;CA)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position22409965
GeneSLC39A14
is asnp
is mentioned by
dbSNPrs879253765
dbSNP (classic)rs879253765
ClinGenrs879253765
ebirs879253765
HLIrs879253765
Exacrs879253765
Gnomadrs879253765
Varsomers879253765
LitVarrs879253765
Maprs879253765
PheGenIrs879253765
Biobankrs879253765
1000 genomesrs879253765
hgdprs879253765
ensemblrs879253765
geneviewrs879253765
scholarrs879253765
googlers879253765
pharmgkbrs879253765
gwascentralrs879253765
openSNPrs879253765
23andMers879253765
SNPshotrs879253765
SNPdbers879253765
MSV3drs879253765
GWAS Ctlgrs879253765
Max Magnitude0
ClinVar
Risk rs879253765(-;-)
Alt rs879253765(-;-)
Reference Rs879253765(CA;CA)
Significance Pathogenic
Disease Hypermanganesemia with dystonia 2
Variation info
Gene SLC39A14
CLNDBN Hypermanganesemia with dystonia 2
Reversed 0
HGVS NC_000008.10:g.22267478_22267479delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000234924.2,