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rs750281602

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs750281602(C;G)
Make rs750281602(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position22419626
GeneSLC39A14
is asnp
is mentioned by
dbSNPrs750281602
ebirs750281602
HLIrs750281602
Exacrs750281602
Varsomers750281602
Maprs750281602
PheGenIrs750281602
hapmaprs750281602
1000 genomesrs750281602
hgdprs750281602
ensemblrs750281602
gopubmedrs750281602
geneviewrs750281602
scholarrs750281602
googlers750281602
pharmgkbrs750281602
gwascentralrs750281602
openSNPrs750281602
23andMers750281602
23andMe allrs750281602
SNP Nexus

SNPshotrs750281602
SNPdbers750281602
MSV3drs750281602
GWAS Ctlgrs750281602
Max Magnitude0
ClinVar
Risk rs750281602(G,T;G,T)
Alt rs750281602(G,T;G,T)
Reference rs750281602(C;C)
Significance Pathogenic
Disease Hypermanganesemia with dystonia 2
Variation info
Gene SLC39A14
CLNDBN Hypermanganesemia with dystonia 2
Reversed 0
HGVS NC_000008.10:g.22277139C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000234922.1,