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rs148987163

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148987163(G;T)
Make rs148987163(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position3916926
GeneMIR103A2, PANK2
is asnp
is mentioned by
dbSNPrs148987163
ebirs148987163
HLIrs148987163
Exacrs148987163
Varsomers148987163
Maprs148987163
PheGenIrs148987163
hapmaprs148987163
1000 genomesrs148987163
hgdprs148987163
ensemblrs148987163
gopubmedrs148987163
geneviewrs148987163
scholarrs148987163
googlers148987163
pharmgkbrs148987163
gwascentralrs148987163
openSNPrs148987163
23andMers148987163
23andMe allrs148987163
SNP Nexus

SNPshotrs148987163
SNPdbers148987163
MSV3drs148987163
GWAS Ctlgrs148987163
Max Magnitude0
ClinVar
Risk rs148987163(T;T)
Alt rs148987163(T;T)
Reference rs148987163(G;G)
Significance Pathogenic
Disease Hypoprebetalipoproteinemia Pigmentary pallidal degeneration
Variation info
Gene MIR103A2 PANK2
CLNDBN Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Pigmentary pallidal degeneration
Reversed 0
HGVS NC_000020.10:g.3897573G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004820.2, RCV000004821.2,