chr19:50882169:A>G Detail (hg19) (NR1H2)

Information

Genome

Assembly Position
hg19 chr19:50,882,169-50,882,169
hg38 chr19:50,378,912-50,378,912 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007121.5:c.748-90A>G
NM_001256647.1:c.457-90A>G
Ensemble ENST00000253727.10:c.748-90A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.908
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 600380 OMIM
HGNC 7965 HGNC
Ensembl ENSG00000131408 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62494288 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 One thousand five hundred seventy-four subjects of European ancestry with elevat... BeFree 21042792 Detail
Annotation

Annotations

DescrptionSourceLinks
One thousand five hundred seventy-four subjects of European ancestry with elevated risk for type 2 d... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2248949 dbSNP
Genome
hg19
Position
chr19:50,882,169-50,882,169
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))
rs2248949
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9081
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15220
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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