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rs137852964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852964(C;C)
Make rs137852964(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3910646
GenePANK2
is asnp
is mentioned by
dbSNPrs137852964
ebirs137852964
HLIrs137852964
Exacrs137852964
Varsomers137852964
Maprs137852964
PheGenIrs137852964
hapmaprs137852964
1000 genomesrs137852964
hgdprs137852964
ensemblrs137852964
gopubmedrs137852964
geneviewrs137852964
scholarrs137852964
googlers137852964
pharmgkbrs137852964
gwascentralrs137852964
openSNPrs137852964
23andMers137852964
23andMe allrs137852964
SNP Nexus

SNPshotrs137852964
SNPdbers137852964
MSV3drs137852964
GWAS Ctlgrs137852964
Max Magnitude0
OMIM606157
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852964(C;C)
Alt rs137852964(C;C)
Reference rs137852964(T;T)
Significance Pathogenic
Disease Neurodegeneration with brain iron accumulation 1
Variation info
Gene PANK2
CLNDBN Neurodegeneration with brain iron accumulation 1, atypical
Reversed 0
HGVS NC_000020.10:g.3891293T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004813.2,