chr11:34460231:C>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr11:34,460,231-34,460,231
hg38 chr11:34,438,684-34,438,684 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:0.026
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
0.223 Hypertensive disease After adjustment for age, body mass index, fibrinogen level and high sensitivity... BeFree 23701472 Detail
0.004 Malignant neoplasm of breast Highly active women harboring variant alleles in CAT rs1001179 were at increased... BeFree 23053794 Detail
0.004 breast carcinoma Highly active women harboring variant alleles in CAT rs1001179 were at increased... BeFree 23053794 Detail
0.131 diabetes mellitus Effects of rs769217 and rs1001179 polymorphisms of catalase gene on blood catala... BeFree 22712453 Detail
<0.001 Prostatic Diseases Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were signific... BeFree 23363810 Detail
0.025 Diabetes Mellitus, Non-Insulin-Dependent After adjustment for age, body mass index, fibrinogen level and high sensitivity... BeFree 23701472 Detail
<0.001 Neurologic Symptoms Patients homozygous for the CAT rs1001179 T allele characterized with later onse... BeFree 24517502 Detail
0.001 Diabetes (i) to determine the extent of oxidative stress and DNA damage and repair using ... BeFree 21338322 Detail
0.131 diabetes mellitus (i) to determine the extent of oxidative stress and DNA damage and repair using ... BeFree 21338322 Detail
<0.001 Stage IV Prostate Cancer AJCC v7 CAT rs1001179 was associated with stage III/IV and stage IV prostate cancer risk... BeFree 25315963 Detail
<0.001 Prostatic Diseases Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were signific... BeFree 23363810 Detail
<0.001 Stage IV Prostate Carcinoma CAT rs1001179 was associated with stage III/IV and stage IV prostate cancer risk... BeFree 25315963 Detail
Annotation

Annotations

DescrptionSourceLinks
After adjustment for age, body mass index, fibrinogen level and high sensitivity C-reactive protein ... DisGeNET Detail
Highly active women harboring variant alleles in CAT rs1001179 were at increased risk of breast canc... DisGeNET Detail
Highly active women harboring variant alleles in CAT rs1001179 were at increased risk of breast canc... DisGeNET Detail
Effects of rs769217 and rs1001179 polymorphisms of catalase gene on blood catalase, carbohydrate and... DisGeNET Detail
Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were significantly associated wit... DisGeNET Detail
After adjustment for age, body mass index, fibrinogen level and high sensitivity C-reactive protein ... DisGeNET Detail
Patients homozygous for the CAT rs1001179 T allele characterized with later onset of WD [median (int... DisGeNET Detail
(i) to determine the extent of oxidative stress and DNA damage and repair using a panel of selected ... DisGeNET Detail
(i) to determine the extent of oxidative stress and DNA damage and repair using a panel of selected ... DisGeNET Detail
CAT rs1001179 was associated with stage III/IV and stage IV prostate cancer risk, with HRs per minor... DisGeNET Detail
Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were significantly associated wit... DisGeNET Detail
CAT rs1001179 was associated with stage III/IV and stage IV prostate cancer risk, with HRs per minor... DisGeNET Detail
Gene
-
dbSNP
rs1001179 dbSNP
Genome
hg19
Position
chr11:34,460,231-34,460,231
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))
rs1001179
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0257
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
430
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser