chr9:134473254:T>C Detail (hg19) (RAPGEF1)

Information

Genome

Assembly Position
hg19 chr9:134,473,254-134,473,254
hg38 chr9:131,597,867-131,597,867 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005312.3:c.2055+332A>G
NM_198679.1:c.2109+332A>G
NM_001304275.1:c.2106+332A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.258
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 600303 OMIM
HGNC 4568 HGNC
Ensembl ENSG00000107263 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37815720 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
0.006 Diabetes Mellitus, Non-Insulin-Dependent We demonstrated that the polymorphism in TP53 (rs1042522) was associated with ty... BeFree 21146886 Detail
Annotation

Annotations

DescrptionSourceLinks
We demonstrated that the polymorphism in TP53 (rs1042522) was associated with type 2 diabetes, and t... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11243444 dbSNP
Genome
hg19
Position
chr9:134,473,254-134,473,254
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs11243444
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2583
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4329
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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