chr8:11359638:G>T Detail (hg19) (BLK)

Information

Genome

Assembly Position
hg19 chr8:11,359,638-11,359,638
hg38 chr8:11,502,129-11,502,129 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001715.2:c.-2+7538G>T
Ensemble ENST00000259089.9:c.-2+7538G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.664
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
Type Database ID Link
Gene MIM 191305 OMIM
HGNC 1057 HGNC
Ensembl ENSG00000136573 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32117153 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
0.051 rheumatoid arthritis Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... BeFree 23678157 Detail
0.123 rheumatoid arthritis Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... BeFree 23678157 Detail
0.128 rheumatoid arthritis Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... BeFree 23678157 Detail
0.128 rheumatoid arthritis [Genes that were most significant in the replication stage and in the combined a... GAD 21452313 Detail
Annotation

Annotations

DescrptionSourceLinks
Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... DisGeNET Detail
Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... DisGeNET Detail
Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... DisGeNET Detail
[Genes that were most significant in the replication stage and in the combined analysis include the ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1600249 dbSNP
Genome
hg19
Position
chr8:11,359,638-11,359,638
Variant Type
snv
Reference Allele
G
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))
rs1600249
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6645
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11137
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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