chr11:71434411:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr11:71,145,457-71,159,481 
hg38 chr11:71,434,411-71,448,435

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 Cardiovascular Diseases NA BeFree Detail
<0.001 colorectal carcinoma NA BeFree Detail
<0.001 Coronary Arteriosclerosis NA BeFree Detail
<0.001 Coronary heart disease NA BeFree Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 Failure to Thrive NA BeFree Detail
<0.001 HIV Infections NA BeFree Detail
0.002 Premature Obstetric Labor NA GAD Detail
0.120 liver cirrhosis NA CTD_human Detail
<0.001 Mental Retardation NA BeFree Detail
<0.001 microcephaly NA BeFree Detail
<0.001 Mucolipidoses NA BeFree Detail
<0.001 multiple sclerosis NA BeFree Detail
<0.001 Ovarian Diseases NA BeFree Detail
<0.001 Uterine Fibroids NA BeFree Detail
0.003 Vitamin D Deficiency NA BeFree,GAD Detail
<0.001 holoprosencephaly NA BeFree Detail
0.610 Smith-Lemli-Opitz syndrome For demonstrative purposes, we analyzed the causative gene for the disorder Smit... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24813812 Detail
0.610 Smith-Lemli-Opitz syndrome The Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive condition that i... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25117108 Detail
<0.001 pediatric AIDS NA BeFree Detail
<0.001 Fibrosis, Liver NA BeFree Detail
<0.001 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects NA BeFree Detail
0.610 Smith-Lemli-Opitz syndrome Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with S... UNIPROT 11427181 Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Craniofacial Abnormalities NA BeFree Detail
<0.001 Hepatitis C, Chronic NA BeFree Detail
<0.001 prostate carcinoma NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 Growth failure NA BeFree Detail
<0.001 Congenital malformation syndrome NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Lathosterolosis NA BeFree Detail
0.001 Desmosterolosis NA BeFree Detail
<0.001 PHOTOPAROXYSMAL RESPONSE 1 NA BeFree Detail
<0.001 coronary artery disease NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
0.120 7-Dehydrocholesterol Reductase Deficiency NA ORPHANET Detail
<0.001 Juvenile arthritis NA BeFree Detail
<0.001 intellectual disability NA BeFree Detail
<0.001 juvenile rheumatoid arthritis NA BeFree Detail
0.004 Congenital Abnormality NA BeFree Detail
<0.001 arteriosclerosis NA BeFree Detail
<0.001 atherosclerosis NA BeFree Detail
0.122 autistic disorder NA CTD_human,GAD Detail
<0.001 Behcet Syndrome NA BeFree Detail
0.120 Metabolic Bone Disorder NA CTD_human Detail
<0.001 Malignant tumor of colon NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
For demonstrative purposes, we analyzed the causative gene for the disorder Smith-Lemli-Opitz Syndro... DisGeNET Detail
The Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive condition that is characterized by a... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz s... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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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
rs28939698 dbSNP
Genome
hg38
Position
chr11:71,434,411-71,448,435
Variant Type
snv
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