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rs137852965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852965(A;G)
Make rs137852965(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3907997
GenePANK2
is asnp
is mentioned by
dbSNPrs137852965
ebirs137852965
HLIrs137852965
Exacrs137852965
Varsomers137852965
Maprs137852965
PheGenIrs137852965
hapmaprs137852965
1000 genomesrs137852965
hgdprs137852965
ensemblrs137852965
gopubmedrs137852965
geneviewrs137852965
scholarrs137852965
googlers137852965
pharmgkbrs137852965
gwascentralrs137852965
openSNPrs137852965
23andMers137852965
23andMe allrs137852965
SNP Nexus

SNPshotrs137852965
SNPdbers137852965
MSV3drs137852965
GWAS Ctlgrs137852965
Max Magnitude0
OMIM606157
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852965(G;G)
Alt rs137852965(G;G)
Reference rs137852965(A;A)
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.3888644A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004814.2,