chr9:5070831:C>G Detail (hg19) (JAK2)

Information

Genome

Assembly Position
hg19 chr9:5,070,831-5,070,831
hg38 chr9:5,070,831-5,070,831 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001322194.1:c.1641+779C>G
NM_001322195.1:c.1641+779C>G
NM_001322196.1:c.1641+779C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.257
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147796 OMIM
HGNC 6192 HGNC
Ensembl ENSG00000096968 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35314463 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.294 Primary myelofibrosis We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera... BeFree 20422415 Detail
0.352 Myeloproliferative disease [The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strong... GAD 20422415 Detail
0.004 polycythemia vera Therefore, we examined 108 Japanese patients with MPN, including 19 with PV, 61 ... BeFree 23430670 Detail
0.294 Primary myelofibrosis We then genotyped 138 MPN patients (33 PV, 96 ET, and 9 PMF) with known JAK2 mut... BeFree 22251709 Detail
0.014 Hematologic Neoplasms [The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strong... GAD 20422415 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential t... DisGeNET Detail
[The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with J... DisGeNET Detail
Therefore, we examined 108 Japanese patients with MPN, including 19 with PV, 61 with ET, 10 with PMF... DisGeNET Detail
We then genotyped 138 MPN patients (33 PV, 96 ET, and 9 PMF) with known JAK2 mutational status and 1... DisGeNET Detail
[The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with J... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10974944 dbSNP
Genome
hg19
Position
chr9:5,070,831-5,070,831
Variant Type
snv
Reference Allele
C
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs10974944
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2575
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4315
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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