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rs10974944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 2.5 Increased odds (2 - 4 fold?) of V617F-associated MPNs
(G;G) 3 2 - 4 fold increased odds of V617F-associated MPNs
ReferenceGRCh37 37.1/131
Chromosome9
Position5070831
GeneJAK2
is asnp
is mentioned by
dbSNPrs10974944
ebirs10974944
HLIrs10974944
Exacrs10974944
Varsomers10974944
Maprs10974944
PheGenIrs10974944
hapmaprs10974944
1000 genomesrs10974944
hgdprs10974944
ensemblrs10974944
gopubmedrs10974944
geneviewrs10974944
scholarrs10974944
googlers10974944
pharmgkbrs10974944
gwascentralrs10974944
openSNPrs10974944
23andMers10974944
23andMe allrs10974944
SNP Nexus

SNPshotrs10974944
SNPdbers10974944
MSV3drs10974944
GWAS Ctlgrs10974944
GMAF0.2567
Max Magnitude3
? (C;C) (C;G) (G;G) 28

The following SNPs are (all) associated with the JAK2 46/1 haplotype that appears to predispose to V617F-positive neoplasms; since they are all part of one haplotype (and are not independent of one another), having one usually implies having the others as well.


[PMID 19287384OA-icon.png] A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.

OMIM147796
DescJANUS KINASE 2; JAK2
Variant
Relatedalso



[PMID 20422415] The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms

Video about this mutation


[PMID 22251709OA-icon.png] The C allele of the JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population


[PMID 20016140] Development of a reliable PCR-RFLP assay for investigation of the JAK2 rs10974944 SNP, which might predispose to the acquisition of somatic mutation JAK2(V617F).


[PMID 21173100OA-icon.png] The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.


[PMID 21281225] JAK2V617F mutation is associated with special alleles in essential thrombocythemia.


GET Evidence
rs10974944
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.203125
summary



[PMID 23420150OA-icon.png] Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population


[PMID 23845539] The association of the JAK2 46/1 haplotype with non-splanchnic venous thrombosis


[PMID 23116358] Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population.


[PMID 23430670] JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients.