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rs28939088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28939088(C;C)
Make rs28939088(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3912532
GenePANK2
is asnp
is mentioned by
dbSNPrs28939088
ebirs28939088
HLIrs28939088
Exacrs28939088
Varsomers28939088
Maprs28939088
PheGenIrs28939088
hapmaprs28939088
1000 genomesrs28939088
hgdprs28939088
ensemblrs28939088
gopubmedrs28939088
geneviewrs28939088
scholarrs28939088
googlers28939088
pharmgkbrs28939088
gwascentralrs28939088
openSNPrs28939088
23andMers28939088
23andMe allrs28939088
SNP Nexus

SNPshotrs28939088
SNPdbers28939088
MSV3drs28939088
GWAS Ctlgrs28939088
Max Magnitude0
OMIM606157
DescHARP SYNDROME
Variant0012
Relatedalso


ClinVar
Risk rs28939088(C;C)
Alt rs28939088(C;C)
Reference rs28939088(T;T)
Significance Pathogenic
Disease Hypoprebetalipoproteinemia
Variation info
Gene PANK2
CLNDBN Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3893179T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004819.2,