chr4:102750922:T>C Detail (hg19) (BANK1)

Information

Genome

Assembly Position
hg19 chr4:102,750,922-102,750,922
hg38 chr4:101,829,765-101,829,765 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_017935.4:c.71-43T>C
NM_001127507.2:c.71-25270T>C
NM_001083907.2:c.-20-43T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.108
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.203

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 610292 OMIM
HGNC 18233 HGNC
Ensembl ENSG00000153064 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18066373 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
0.265 Lupus Erythematosus, Systemic To investigate 1 functional (rs17266594) and 2 potentially functional (rs1051648... BeFree 19180476 Detail
0.022 Lupus Erythematosus, Systemic This study implies that rs10516487 and rs17266594 polymorphisms might contribute... BeFree 21078628 Detail
0.002 Lupus Erythematosus, Systemic This study implies that rs10516487 and rs17266594 polymorphisms might contribute... BeFree 21078628 Detail
0.121 rheumatoid arthritis A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... BeFree 19714582 Detail
0.125 rheumatoid arthritis A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... BeFree 19714582 Detail
<0.001 rheumatoid arthritis A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... BeFree 19714582 Detail
0.003 rheumatoid arthritis A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... BeFree 19714582 Detail
Annotation

Annotations

DescrptionSourceLinks
To investigate 1 functional (rs17266594) and 2 potentially functional (rs10516487 and rs3733197) BAN... DisGeNET Detail
This study implies that rs10516487 and rs17266594 polymorphisms might contribute to individual susce... DisGeNET Detail
This study implies that rs10516487 and rs17266594 polymorphisms might contribute to individual susce... DisGeNET Detail
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... DisGeNET Detail
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... DisGeNET Detail
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... DisGeNET Detail
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17266594 dbSNP
Genome
hg19
Position
chr4:102,750,922-102,750,922
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs17266594
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1079
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1809
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
2106
East Asian Allele Counts (ExAC)
427
East Asian Heterozygous Counts (ExAC)
355
East Asian Homozygous Counts (ExAC)
36
East Asian Allele Frequency (ExAC)
0.20275403608736942
Chromosome Counts in All Race (ExAC)
46760
Allele Counts in All Race (ExAC)
13917
Heterozygous Counts in All Race (ExAC)
10269
Homozygous Counts in All Race (ExAC)
1824
Allele Frequency in All Race (ExAC)
0.29762617621899057
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