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rs398122409

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGG;GGG) 0 common in clinvar
Make rs398122409(-;-)
Make rs398122409(-;GGG)
ReferenceGRCh38 38.1/141
Chromosome19
Position29702972
GeneC19orf12
is asnp
is mentioned by
dbSNPrs398122409
dbSNP (classic)rs398122409
ClinGenrs398122409
ebirs398122409
HLIrs398122409
Exacrs398122409
Gnomadrs398122409
Varsomers398122409
LitVarrs398122409
Maprs398122409
PheGenIrs398122409
Biobankrs398122409
1000 genomesrs398122409
hgdprs398122409
ensemblrs398122409
geneviewrs398122409
scholarrs398122409
googlers398122409
pharmgkbrs398122409
gwascentralrs398122409
openSNPrs398122409
23andMers398122409
SNPshotrs398122409
SNPdbers398122409
MSV3drs398122409
GWAS Ctlgrs398122409
Max Magnitude0
ClinVar
Risk rs398122409(-;-)
Alt rs398122409(-;-)
Reference Rs398122409(GGG;GGG)
Significance Pathogenic
Disease Neurodegeneration with brain iron accumulation 4
Variation info
Gene C19orf12
CLNDBN Neurodegeneration with brain iron accumulation 4
Reversed 1
HGVS NC_000019.9:g.30193879_30193881delCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000074455.4,