chr4:122194347:A>G Detail (hg38) (BLTP1)

Information

Genome

Assembly Position
hg19 chr4:123,115,502-123,115,502 View the variant detail on this assembly version.
hg38 chr4:122,194,347-122,194,347

HGVS

Type Transcript Protein
RefSeq NM_015312.3:c.1052+1968A>G
Ensemble ENST00000264501.8:c.1052+1968A>G
ENST00000388738.8:c.1052+1968A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 611565 OMIM
HGNC 26953 HGNC
Ensembl ENSG00000138688 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv196969622 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
0.002 prostate carcinoma We genotyped six variants previously associated with autoimmune disease (namely ... BeFree 20184734 Detail
0.007 Malignant neoplasm of prostate We genotyped six variants previously associated with autoimmune disease (namely ... BeFree 20184734 Detail
0.017 Autoimmune Diseases We genotyped six variants previously associated with autoimmune disease (namely ... BeFree 20184734 Detail
0.135 celiac disease [Multiple common variants for celiac disease influencing immune gene expression.... GAD 20190752 Detail
0.141 celiac disease [Multiple common variants for celiac disease influencing immune gene expression.... GAD 20190752 Detail
0.135 celiac disease Genome-wide association study of celiac disease in North America confirms FRMD4B... GWASCAT 24999842 Detail
0.021 celiac disease [Multiple common variants for celiac disease influencing immune gene expression.... GAD 20190752 Detail
0.135 celiac disease Multiple common variants for celiac disease influencing immune gene expression. GWASCAT 20190752 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs131197... DisGeNET Detail
We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs131197... DisGeNET Detail
We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs131197... DisGeNET Detail
[Multiple common variants for celiac disease influencing immune gene expression.] DisGeNET Detail
[Multiple common variants for celiac disease influencing immune gene expression.] DisGeNET Detail
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus... DisGeNET Detail
[Multiple common variants for celiac disease influencing immune gene expression.] DisGeNET Detail
Multiple common variants for celiac disease influencing immune gene expression. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs13151961 dbSNP
Genome
hg38
Position
chr4:122,194,347-122,194,347
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser