chr8:128441170:C>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr8:128,441,170-128,441,170
hg38 chr8:127,428,925-127,428,925 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:0.239
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
0.256 Malignant neoplasm of prostate Of note, rs7000448 is in strong linkage disequilibrium with rs10761581 in NCOA4,... BeFree 20717903 Detail
0.003 prostate carcinoma Of note, rs7000448 is in strong linkage disequilibrium with rs10761581 in NCOA4,... BeFree 20717903 Detail
0.005 Malignant neoplasm of prostate Of note, rs7000448 is in strong linkage disequilibrium with rs10761581 in NCOA4,... BeFree 20717903 Detail
0.011 prostate carcinoma Of note, rs7000448 is in strong linkage disequilibrium with rs10761581 in NCOA4,... BeFree 20717903 Detail
Annotation

Annotations

DescrptionSourceLinks
Of note, rs7000448 is in strong linkage disequilibrium with rs10761581 in NCOA4, a SNP that has been... DisGeNET Detail
Of note, rs7000448 is in strong linkage disequilibrium with rs10761581 in NCOA4, a SNP that has been... DisGeNET Detail
Of note, rs7000448 is in strong linkage disequilibrium with rs10761581 in NCOA4, a SNP that has been... DisGeNET Detail
Of note, rs7000448 is in strong linkage disequilibrium with rs10761581 in NCOA4, a SNP that has been... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7000448 dbSNP
Genome
hg19
Position
chr8:128,441,170-128,441,170
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))
rs7000448
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2387
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4001
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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