chr1:230295691:G>A Detail (hg19) (GALNT2)

Information

Genome

Assembly Position
hg19 chr1:230,295,691-230,295,691
hg38 chr1:230,159,944-230,159,944 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001291866.1:c.127-18273G>A
NM_004481.4:c.127-18273G>A
Ensemble ENST00000366672.5:c.127-18273G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.206
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 602274 OMIM
HGNC 4124 HGNC
Ensembl ENSG00000143641 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5120794 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
0.003 Cerebrovascular accident Because affected lipid metabolism can confer risk to the development of ischaemi... BeFree 20158509 Detail
Annotation

Annotations

DescrptionSourceLinks
Because affected lipid metabolism can confer risk to the development of ischaemic stroke, we studied... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4846914 dbSNP
Genome
hg19
Position
chr1:230,295,691-230,295,691
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs4846914
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2065
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3461
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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