chr22:38936618:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr22:39,332,623-39,332,623 View the variant detail on this assembly version.
hg38 chr22:38,936,618-38,936,618

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.432
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
0.002 Bladder Neoplasm [A multi-stage genome-wide association study of bladder cancer identifies multip... GAD 20972438 Detail
0.001 Carcinoma of bladder In a combined analysis, we identified three new regions associated with bladder ... BeFree 20972438 Detail
0.003 Malignant neoplasm of urinary bladder In a combined analysis, we identified three new regions associated with bladder ... BeFree 20972438 Detail
<0.001 Carcinoma of bladder In a combined analysis, we identified three new regions associated with bladder ... BeFree 20972438 Detail
0.001 Malignant neoplasm of urinary bladder In a combined analysis, we identified three new regions associated with bladder ... BeFree 20972438 Detail
Annotation

Annotations

DescrptionSourceLinks
[A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility lo... DisGeNET Detail
In a combined analysis, we identified three new regions associated with bladder cancer on chromosome... DisGeNET Detail
In a combined analysis, we identified three new regions associated with bladder cancer on chromosome... DisGeNET Detail
In a combined analysis, we identified three new regions associated with bladder cancer on chromosome... DisGeNET Detail
In a combined analysis, we identified three new regions associated with bladder cancer on chromosome... DisGeNET Detail
Gene
-
dbSNP
rs1014971 dbSNP
Genome
hg38
Position
chr22:38,936,618-38,936,618
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1014971
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4323
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7245
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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