chr1:65624099:C>T Detail (hg38) (LEPR)

Information

Genome

Assembly Position
hg19 chr1:66,089,782-66,089,782 View the variant detail on this assembly version.
hg38 chr1:65,624,099-65,624,099

HGVS

Type Transcript Protein
RefSeq NM_001198687.1:c.2673+1118C>T
NM_001198688.1:c.2673+1118C>T
NM_002303.5:c.2673+1118C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.859
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 601007 OMIM
HGNC 6554 HGNC
Ensembl ENSG00000116678 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1822787 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
<0.001 Coronary Arteriosclerosis SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
<0.001 Coronary heart disease SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.002 Coronary Arteriosclerosis SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.260 Coronary heart disease SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.127 Coronary heart disease SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.069 Coronary Arteriosclerosis SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.321 Diabetes Mellitus, Non-Insulin-Dependent This study was designed to assess the role of soluble leptin and LepRb in NAFLD ... BeFree 22215535 Detail
0.121 Non-alcoholic Fatty Liver Disease This study was designed to assess the role of soluble leptin and LepRb in NAFLD ... BeFree 22215535 Detail
0.239 Diabetes Mellitus, Non-Insulin-Dependent This study was designed to assess the role of soluble leptin and LepRb in NAFLD ... BeFree 22215535 Detail
Annotation

Annotations

DescrptionSourceLinks
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
This study was designed to assess the role of soluble leptin and LepRb in NAFLD and to investigate w... DisGeNET Detail
This study was designed to assess the role of soluble leptin and LepRb in NAFLD and to investigate w... DisGeNET Detail
This study was designed to assess the role of soluble leptin and LepRb in NAFLD and to investigate w... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6700896 dbSNP
Genome
hg38
Position
chr1:65,624,099-65,624,099
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))
rs6700896
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8595
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14405
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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