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rs121912420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912420(C;T)
Make rs121912420(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position20786951
GenePI4KA, SERPIND1
is asnp
is mentioned by
dbSNPrs121912420
ebirs121912420
HLIrs121912420
Exacrs121912420
Varsomers121912420
Maprs121912420
PheGenIrs121912420
hapmaprs121912420
1000 genomesrs121912420
hgdprs121912420
ensemblrs121912420
gopubmedrs121912420
geneviewrs121912420
scholarrs121912420
googlers121912420
pharmgkbrs121912420
gwascentralrs121912420
openSNPrs121912420
23andMers121912420
23andMe allrs121912420
SNP Nexus

SNPshotrs121912420
SNPdbers121912420
MSV3drs121912420
GWAS Ctlgrs121912420
Max Magnitude0
OMIM142360
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912420(T;T)
Alt rs121912420(T;T)
Reference rs121912420(C;C)
Significance Pathogenic
Disease Heparin cofactor II deficiency
Variation info
Gene SERPIND1 PI4KA
CLNDBN Heparin cofactor II deficiency
Reversed 0
HGVS NC_000022.10:g.21141239C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016095.26,