chr7:73464315:A>G Detail (hg38) (BAZ1B)

Information

Genome

Assembly Position
hg19 chr7:72,878,645-72,878,645 View the variant detail on this assembly version.
hg38 chr7:73,464,315-73,464,315

HGVS

Type Transcript Protein
RefSeq NM_032408.3:c.3071+1124T>C
Ensemble ENST00000339594.9:c.3071+1124T>C
ENST00000404251.1:c.3071+1124T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.104
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 605681 OMIM
HGNC 961 HGNC
Ensembl ENSG00000009954 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29694042 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
0.003 Diabetes Mellitus, Non-Insulin-Dependent Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... BeFree 20580033 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... BeFree 20580033 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... BeFree 20580033 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-... BeFree 20580033 Detail
Annotation

Annotations

DescrptionSourceLinks
Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... DisGeNET Detail
Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... DisGeNET Detail
Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... DisGeNET Detail
Three SNPs-rs7756992 (P = .007), rs7754840 (P = .015), and rs6931514 (P = .029)-of the CDKAL1, rs702... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12056034 dbSNP
Genome
hg38
Position
chr7:73,464,315-73,464,315
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs12056034
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1044
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1749
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser