chr16:30957294:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr16:30,968,615-30,995,985 
hg38 chr16:30,957,294-30,984,664

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
<0.001 diarrhea NA BeFree Detail
<0.001 Shigella Infections NA BeFree Detail
0.002 Head and Neck Neoplasms NA GAD Detail
<0.001 HIV Infections NA BeFree Detail
<0.001 leukemia NA BeFree Detail
0.002 Neoplasm Recurrence, Local NA GAD Detail
<0.001 ovarian carcinoma NA BeFree Detail
<0.001 schizophrenia NA BeFree Detail
<0.001 Experimental Organism Basal Cell Carcinoma A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution... BeFree 21700618 Detail
0.002 Neoplasms, Second Primary NA GAD Detail
<0.001 acute leukemia NA BeFree Detail
<0.001 Deep Vein Thrombosis NA BeFree Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 Systemic candidiasis NA BeFree Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 essential tremor NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 Spondylarthropathies NA BeFree Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
<0.001 Hereditary Nonpolyposis Colorectal Cancer NA BeFree Detail
<0.001 Neurodevelopmental Disorders We describe four H3K4me methyltransferases (KMT2A, KMT2C, KMT2D, KMT2F), four de... BeFree 26077434 Detail
<0.001 Invasive Candidiasis NA BeFree Detail
<0.001 Experimental Organism Basal Cell Carcinoma NA BeFree Detail
<0.001 adenocarcinoma NA BeFree Detail
<0.001 rheumatoid arthritis NA BeFree Detail
<0.001 Bacteremia NA BeFree Detail
<0.001 candidiasis NA BeFree Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
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
A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well... 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
NA DisGeNET Detail
NA DisGeNET Detail
We describe four H3K4me methyltransferases (KMT2A, KMT2C, KMT2D, KMT2F), four demethylases (KDM1A, K... 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

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
rs386505388 dbSNP
Genome
hg38
Position
chr16:30,957,294-30,984,664
Variant Type
snv
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