chr1:202193799:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:202,162,927-202,288,909 
hg38 chr1:202,193,799-202,319,781

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 squamous cell carcinoma NA BeFree Detail
0.120 Colorectal Neoplasms NA CTD_human Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 gastroesophageal reflux disease NA BeFree Detail
<0.001 glioblastoma NA BeFree Detail
<0.001 Heart failure Down-regulation and desensitization of β-adrenergic receptors (β-AR) caused by G... BeFree 24702056 Detail
<0.001 congestive heart failure Down-regulation and desensitization of β-adrenergic receptors (β-AR) caused by G... BeFree 24702056 Detail
0.001 HIV Infections NA BeFree Detail
<0.001 Huntington disease In addition, we show that the activation of autophagy by pharmacological inhibit... BeFree 25821988 Detail
<0.001 male infertility NA BeFree Detail
<0.001 ischemia As a result of its regulation by inflammatory ligands for GPCRs and its ability ... BeFree 25453218 Detail
<0.001 melanoma NA BeFree Detail
<0.001 Non-infiltrating lobular carcinoma Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... BeFree 24743323 Detail
<0.001 Lobular carcinoma in situ of breast Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... BeFree 24743323 Detail
<0.001 obesity NA BeFree Detail
<0.001 Degenerative polyarthritis NA BeFree Detail
0.120 post-traumatic stress disorder NA GWASCAT Detail
0.001 Tumor Progression This secreted enzyme produces extracellular lysophosphatidate, which signals thr... BeFree 26071407 Detail
<0.001 Sex cord-stromal tumor NA BeFree Detail
<0.001 Neuroendocrine Tumors NA BeFree Detail
<0.001 Taste bitter The oral GPCR nutrient/taste receptor gene repertoire consists of the Tas1r fami... BeFree 25471201 Detail
<0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Male Pseudohermaphroditism NA BeFree Detail
<0.001 Lobular carcinoma in situ of breast NA BeFree Detail
<0.001 Non-infiltrating lobular carcinoma NA BeFree Detail
<0.001 Familial Testotoxicosis NA BeFree Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Neurodegenerative Disorders Our study demonstrates a common molecular mechanism by which the activation of G... BeFree 25821988 Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Leydig cell hypoplasia NA BeFree Detail
<0.001 Epithelioma NA BeFree Detail
<0.001 Conn Syndrome NA BeFree Detail
0.120 Mammary Neoplasms NA CTD_human Detail
<0.001 Cancer Cell Growth NA BeFree Detail
<0.001 Tumor Angiogenesis Brain angiogenesis inhibitor 1 (BAI1) is a GPCR involved in tumor angiogenesis, ... BeFree 25376607 Detail
<0.001 ACTH-independent macronodular adrenal hyperplasia NA BeFree Detail
<0.001 Albinism NA BeFree Detail
<0.001 amenorrhea NA BeFree Detail
<0.001 asthma NA BeFree Detail
<0.001 Mental disorders NA BeFree Detail
<0.001 Blood Coagulation Disorders NA BeFree Detail
0.121 Malignant neoplasm of breast NA BeFree,GWASCAT Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Down-regulation and desensitization of β-adrenergic receptors (β-AR) caused by G-protein-coupled rec... DisGeNET Detail
Down-regulation and desensitization of β-adrenergic receptors (β-AR) caused by G-protein-coupled rec... DisGeNET Detail
NA DisGeNET Detail
In addition, we show that the activation of autophagy by pharmacological inhibition of GPCR reduces ... DisGeNET Detail
NA DisGeNET Detail
As a result of its regulation by inflammatory ligands for GPCRs and its ability to promote chronic s... DisGeNET Detail
NA DisGeNET Detail
Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... DisGeNET Detail
Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This secreted enzyme produces extracellular lysophosphatidate, which signals through 6 GPCRs to driv... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The oral GPCR nutrient/taste receptor gene repertoire consists of the Tas1r family (sweet and umami ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our study demonstrates a common molecular mechanism by which the activation of GPCRs leads to the su... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Brain angiogenesis inhibitor 1 (BAI1) is a GPCR involved in tumor angiogenesis, invasion, phagocytos... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1752911 dbSNP
Genome
hg38
Position
chr1:202,193,799-202,319,781
Variant Type
snv
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