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rs121912472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 JAK2-K607N variant
(C;G) 2 JAK2-K607N variant
(G;G) 0 common in clinvar
ReferenceGRCh37.p5 37.3/135
Chromosome9
Position5073742
GeneJAK2
is asnp
is mentioned by
dbSNPrs121912472
ebirs121912472
HLIrs121912472
Exacrs121912472
Varsomers121912472
Maprs121912472
PheGenIrs121912472
hapmaprs121912472
1000 genomesrs121912472
hgdprs121912472
ensemblrs121912472
gopubmedrs121912472
geneviewrs121912472
scholarrs121912472
googlers121912472
pharmgkbrs121912472
gwascentralrs121912472
openSNPrs121912472
23andMers121912472
23andMe allrs121912472
SNP Nexus

SNPshotrs121912472
SNPdbers121912472
MSV3drs121912472
GWAS Ctlgrs121912472
Max Magnitude2
rs121912472, also known as Lys607Asn, is a variant likely to be acquired (i.e. somatic) in the Janus kinase 2 JAK2 gene. The (rare) rs121912472(C) variant may be associated with certain myeloproliferative disorders.

See: OMIM 147796.0002

OMIM147796
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912472(C;C)
Alt rs121912472(C;C)
Reference rs121912472(G;G)
Significance Pathogenic
Disease Acute myeloid leukemia
Variation info
Gene JAK2
CLNDBN Acute myeloid leukemia
Reversed 0
HGVS NC_000009.11:g.5073742G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015773.4,