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rs137852966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852966(C;T)
Make rs137852966(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3908129
GenePANK2
is asnp
is mentioned by
dbSNPrs137852966
ebirs137852966
HLIrs137852966
Exacrs137852966
Varsomers137852966
Maprs137852966
PheGenIrs137852966
hapmaprs137852966
1000 genomesrs137852966
hgdprs137852966
ensemblrs137852966
gopubmedrs137852966
geneviewrs137852966
scholarrs137852966
googlers137852966
pharmgkbrs137852966
gwascentralrs137852966
openSNPrs137852966
23andMers137852966
23andMe allrs137852966
SNP Nexus

SNPshotrs137852966
SNPdbers137852966
MSV3drs137852966
GWAS Ctlgrs137852966
Max Magnitude0
OMIM606157
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852966(T;T)
Alt rs137852966(T;T)
Reference rs137852966(C;C)
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.3888776C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004815.2,