chr9:22043926:A>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr9:22,043,926-22,043,926
hg38 chr9:22,043,927-22,043,927 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.154
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.327 Diabetes Mellitus, Non-Insulin-Dependent Of the 18 polymorphisms, the ADAMTS9, CDKAL1, CDKN2A/B-rs1412829, FTO, IGF2BP2, ... BeFree 18694974 Detail
<0.001 anaplastic astrocytoma Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs141282... BeFree 20212223 Detail
0.121 Glioma Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma s... GWASCAT 19578366 Detail
<0.001 anaplastic astrocytoma Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs141282... BeFree 20212223 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Of the 18 polymorphisms, the ADAMTS9, CDKAL1, CDKN2A/B-rs1412829, FTO, IGF2BP2, ... BeFree 18694974 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Of the 18 polymorphisms, the ADAMTS9, CDKAL1, CDKN2A/B-rs1412829, FTO, IGF2BP2, ... BeFree 18694974 Detail
0.120 Nasopharyngeal carcinoma A genome-wide association study of nasopharyngeal carcinoma identifies three new... GWASCAT 20512145 Detail
<0.001 childhood brain tumor The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 ... BeFree 26014354 Detail
Annotation

Annotations

DescrptionSourceLinks
Of the 18 polymorphisms, the ADAMTS9, CDKAL1, CDKN2A/B-rs1412829, FTO, IGF2BP2, JAZF1, SLC30A8, TCF7... DisGeNET Detail
Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs1412829 and RTEL1 rs601062... DisGeNET Detail
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. DisGeNET Detail
Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs1412829 and RTEL1 rs601062... DisGeNET Detail
Of the 18 polymorphisms, the ADAMTS9, CDKAL1, CDKN2A/B-rs1412829, FTO, IGF2BP2, JAZF1, SLC30A8, TCF7... DisGeNET Detail
Of the 18 polymorphisms, the ADAMTS9, CDKAL1, CDKN2A/B-rs1412829, FTO, IGF2BP2, JAZF1, SLC30A8, TCF7... DisGeNET Detail
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci... DisGeNET Detail
The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 (p = 0.037), rs21577... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1412829 dbSNP
Genome
hg19
Position
chr9:22,043,926-22,043,926
Variant Type
snv
Reference Allele
A
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))
rs1412829
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1535
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2573
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser