chr2:169348336:C>T Detail (hg38) (LRP2)

Information

Genome

Assembly Position
hg19 chr2:170,204,846-170,204,846 View the variant detail on this assembly version.
hg38 chr2:169,348,336-169,348,336

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000443831.1:c.79+13985G>A
ENST00000649046.1:c.79+13985G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.507
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 600073 OMIM
HGNC 6694 HGNC
Ensembl ENSG00000081479 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9436247 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
0.171 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P < 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
0.004 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
0.004 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
Annotation

Annotations

DescrptionSourceLinks
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2544390 dbSNP
Genome
hg38
Position
chr2:169,348,336-169,348,336
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))
rs2544390
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.507
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8498
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser