chr6:31753256:G>A Detail (hg38) (MSH5, MSH5-SAPCD1)

Information

Genome

Assembly Position
hg19 chr6:31,721,033-31,721,033 View the variant detail on this assembly version.
hg38 chr6:31,753,256-31,753,256

HGVS

Type Transcript Protein
RefSeq NM_172165.3:c.813-45G>A
NM_025259.5:c.864-45G>A
NM_172166.3:c.813-45G>A
Type Transcript Protein
RefSeq NR_037846.1:c.864-45G>A
Ensemble ENST00000493662.6:c.864-45G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603382 OMIM
HGNC 7328 HGNC
Ensembl ENSG00000204410 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv259836819 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 41994 HGNC
Ensembl ENSG00000255152 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv259836819 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Lupus Erythematosus, Discoid Importantly, our data suggest that in patients with lupus, the presence of the H... BeFree 21952918 Detail
0.235 Lupus Erythematosus, Systemic Importantly, our data suggest that in patients with lupus, the presence of the H... BeFree 21952918 Detail
0.004 Lupus Vulgaris Importantly, our data suggest that in patients with lupus, the presence of the H... BeFree 21952918 Detail
0.018 lupus erythematosus Importantly, our data suggest that in patients with lupus, the presence of the H... BeFree 21952918 Detail
0.130 Lupus Erythematosus, Systemic NA GAD Detail
0.120 Lupus Erythematosus, Systemic Genome-wide association scan in women with systemic lupus erythematosus identifi... GWASCAT 18204446 Detail
0.130 Lupus Erythematosus, Systemic Genome-wide association scan in women with systemic lupus erythematosus identifi... GWASCAT 18204446 Detail
0.130 Lupus Erythematosus, Systemic [Genome-wide association scan in women with systemic lupus erythematosus identif... GAD 18204446 Detail
0.007 Diabetes Mellitus, Insulin-Dependent NA GAD Detail
0.023 Lupus Erythematosus, Systemic Using a list of 11 single nucleotide polymorphisms from the results of genome-wi... BeFree 25882064 Detail
<0.001 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
0.003 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
Annotation

Annotations

DescrptionSourceLinks
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele... DisGeNET Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele... DisGeNET Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele... DisGeNET Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele... DisGeNET Detail
NA DisGeNET Detail
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility va... DisGeNET Detail
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility va... DisGeNET Detail
[Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility v... DisGeNET Detail
NA DisGeNET Detail
Using a list of 11 single nucleotide polymorphisms from the results of genome-wide association studi... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr6:31,753,256-31,753,256
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.160092807424594E-4
Chromosome Counts in All Race (ExAC)
114422
Allele Counts in All Race (ExAC)
7789
Heterozygous Counts in All Race (ExAC)
7029
Homozygous Counts in All Race (ExAC)
380
Allele Frequency in All Race (ExAC)
0.06807257345615354
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