chr10:121149403:C>T Detail (hg19) (GRK5)

Information

Genome

Assembly Position
hg19 chr10:121,149,403-121,149,403
hg38 chr10:119,389,891-119,389,891 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005308.2:c.262-6804C>T
Ensemble ENST00000392870.3:c.262-6804C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.261
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 600870 OMIM
HGNC 4544 HGNC
Ensembl ENSG00000198873 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40857341 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
0.421 Diabetes Mellitus, Non-Insulin-Dependent Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, ... BeFree 22961080 Detail
0.121 Diabetes Mellitus, Non-Insulin-Dependent A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes l... GWASCAT 22961080 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent In nondiabetic individuals, the T2D risk-increasing allele of RASGRP1-rs7403531 ... BeFree 22961080 Detail
Annotation

Annotations

DescrptionSourceLinks
Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, GLIS3, HNF1B, and DU... DisGeNET Detail
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. DisGeNET Detail
In nondiabetic individuals, the T2D risk-increasing allele of RASGRP1-rs7403531 was also associated ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10886471 dbSNP
Genome
hg19
Position
chr10:121,149,403-121,149,403
Variant Type
snv
Reference Allele
C
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))
rs10886471
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2608
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4371
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser