chr15:38530704:T>G Detail (hg38) (RASGRP1)

Information

Genome

Assembly Position
hg19 chr15:38,822,905-38,822,905 View the variant detail on this assembly version.
hg38 chr15:38,530,704-38,530,704

HGVS

Type Transcript Protein
RefSeq NM_001128602.1:c.221-4300A>C
NM_005739.3:c.221-4300A>C
NM_001306086.1:c.221-4300A>C
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 603962 OMIM
HGNC 9878 HGNC
Ensembl ENSG00000172575 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.120 Diabetes Mellitus, Non-Insulin-Dependent A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes l... GWASCAT 22961080 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, ... BeFree 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
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. DisGeNET Detail
Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, GLIS3, HNF1B, and DU... 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
rs7403531 dbSNP
Genome
hg38
Position
chr15:38,530,704-38,530,704
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser