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rs137852968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852968(C;T)
Make rs137852968(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3916955
GenePANK2
is asnp
is mentioned by
dbSNPrs137852968
ClinGenrs137852968
ebirs137852968
HLIrs137852968
Exacrs137852968
Varsomers137852968
Maprs137852968
PheGenIrs137852968
hapmaprs137852968
1000 genomesrs137852968
hgdprs137852968
ensemblrs137852968
gopubmedrs137852968
geneviewrs137852968
scholarrs137852968
googlers137852968
pharmgkbrs137852968
gwascentralrs137852968
openSNPrs137852968
23andMers137852968
23andMe allrs137852968
SNP Nexus

SNPshotrs137852968
SNPdbers137852968
MSV3drs137852968
GWAS Ctlgrs137852968
Max Magnitude0
OMIM606157
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137852968(A;A) rs137852968(T;T)
Alt rs137852968(A;A) rs137852968(T;T)
Reference Rs137852968(C;C)
Significance Pathogenic
Disease Hypoprebetalipoproteinemia
Variation info
Gene MIR103A2 PANK2
CLNDBN Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3897602C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004818.2,