chr9:5072846:G>A Detail (hg19) (JAK2, INSL6)

Information

Genome

Assembly Position
hg19 chr9:5,072,846-5,072,846
hg38 chr9:5,072,846-5,072,846 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001322194.1:c.1776+220G>A
NM_001322195.1:c.1776+220G>A
NM_001322196.1:c.1776+220G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.149
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
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 tgv35314562 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 polycythemia vera Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single ... BeFree 18006699 Detail
<0.001 Primary myelofibrosis Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single ... BeFree 18006699 Detail
0.003 Thrombocythemia, Essential Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single ... BeFree 18006699 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004972.4(JAK2):c.1776+220G>A AND not provided ClinVar Detail
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) ... DisGeNET Detail
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) ... DisGeNET Detail
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10974947 dbSNP
Genome
hg19
Position
chr9:5,072,846-5,072,846
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs10974947
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1487
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2492
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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