chr6:31962664:G>C Detail (hg38) (SKIC2)

Information

Genome

Assembly Position
hg19 chr6:31,930,441-31,930,441 View the variant detail on this assembly version.
hg38 chr6:31,962,664-31,962,664

HGVS

Type Transcript Protein
RefSeq NM_006929.4:c.1212-50G>C
Ensemble ENST00000375394.7:c.1212-50G>C
ENST00000491994.2:c.1212-50G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600478 OMIM
HGNC 10898 HGNC
Ensembl ENSG00000204351 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.131 age related macular degeneration NA GAD Detail
0.120 Infant length A novel common variant in DCST2 is associated with length in early life and heig... GWASCAT 25281659 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
A novel common variant in DCST2 is associated with length in early life and height in adulthood. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr6:31,962,664-31,962,664
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8520
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
117558
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.954507562224604E-5
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