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rs281860285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCCGGCCCG;CCCGGCCCG) 0 common in clinvar
Make rs281860285(-;-)
Make rs281860285(-;CCCGGCCCG)
ReferenceGRCh38 38.1/141
Chromosome1
Position219928119
GeneSLC30A10
is asnp
is mentioned by
dbSNPrs281860285
ebirs281860285
HLIrs281860285
Exacrs281860285
Varsomers281860285
Maprs281860285
PheGenIrs281860285
hapmaprs281860285
1000 genomesrs281860285
hgdprs281860285
ensemblrs281860285
gopubmedrs281860285
geneviewrs281860285
scholarrs281860285
googlers281860285
pharmgkbrs281860285
gwascentralrs281860285
openSNPrs281860285
23andMers281860285
23andMe allrs281860285
SNP Nexus

SNPshotrs281860285
SNPdbers281860285
MSV3drs281860285
GWAS Ctlgrs281860285
Max Magnitude0
ClinVar
Risk rs281860285(;)
Alt rs281860285(;)
Reference rs281860285(CCCGGCCCG;CCCGGCCCG)
Significance Pathogenic
Disease Hypermanganesemia with dystonia
Variation info
Gene SLC30A10
CLNDBN Hypermanganesemia with dystonia, polycythemia and cirrhosis
Reversed 1
HGVS NC_000001.10:g.220101461_220101469delCGGGCCGGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000023870.2,