chr21:46931684:G>A Detail (hg19) (SLC19A1, COL18A1)

Information

Genome

Assembly Position
hg19 chr21:46,931,684-46,931,684
hg38 chr21:45,511,770-45,511,770 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_030582.3:c.4350-418G>A
NM_130444.2:c.5055-418G>A
Ensemble ENST00000355480.10:c.4350-418G>A
Type Transcript Protein
RefSeq
Ensemble ENST00000567670.5:c.1294-13158C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.606
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 120328 OMIM
HGNC 2195 HGNC
Ensembl ENSG00000182871 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65234327 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 600424 OMIM
HGNC 10937 HGNC
Ensembl ENSG00000173638 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65234327 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
0.120 adenoma Five SNPs in the SLC19A1 (RFC1) gene: rs1051266 (G80A), rs283895, rs2236484, rs1... BeFree 21274745 Detail
Annotation

Annotations

DescrptionSourceLinks
Five SNPs in the SLC19A1 (RFC1) gene: rs1051266 (G80A), rs283895, rs2236484, rs12482346, and rs28389... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2236484 dbSNP
Genome
hg19
Position
chr21:46,931,684-46,931,684
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))
rs2236484
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.606
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10155
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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