Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs121912473(AA;TT)
Make rs121912473(TT;TT)
ReferenceGRCh37.p5 37.3/135
Chromosome9
Position5070026
GeneJAK2
is asnp
is mentioned by
dbSNPrs121912473
ebirs121912473
HLIrs121912473
Exacrs121912473
Varsomers121912473
Maprs121912473
PheGenIrs121912473
hapmaprs121912473
1000 genomesrs121912473
hgdprs121912473
ensemblrs121912473
gopubmedrs121912473
geneviewrs121912473
scholarrs121912473
googlers121912473
pharmgkbrs121912473
gwascentralrs121912473
openSNPrs121912473
23andMers121912473
23andMe allrs121912473
SNP Nexus

SNPshotrs121912473
SNPdbers121912473
MSV3drs121912473
GWAS Ctlgrs121912473
Max Magnitude0
OMIM147796
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912473(TT;TT)
Alt rs121912473(TT;TT)
Reference rs121912473(AA;AA)
Significance Pathogenic
Disease ERYTHROCYTOSIS
Variation info
Gene JAK2
CLNDBN ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
Reversed 0
HGVS NC_000009.11:g.5070026_5070027delAAinsTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015774.5,