chr6:25823216:A>T Detail (hg38) (SLC17A1)

Information

Genome

Assembly Position
hg19 chr6:25,823,444-25,823,444 View the variant detail on this assembly version.
hg38 chr6:25,823,216-25,823,216

HGVS

Type Transcript Protein
RefSeq NM_005074.3:c.207+3245T>A
Ensemble ENST00000244527.10:c.207+3245T>A
ENST00000468082.1:c.207+3245T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.843
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 182308 OMIM
HGNC 10929 HGNC
Ensembl ENSG00000124568 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24604757 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
<0.001 Arthritis, Gouty Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 i... BeFree 26290326 Detail
0.002 Serum uric acid observed [Meta-analysis of 28,141 individuals identifies common variants within five new ... GAD 19503597 Detail
<0.001 Arthritis, Gouty Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 i... BeFree 26290326 Detail
<0.001 Arthritis, Gouty Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 i... BeFree 26290326 Detail
Annotation

Annotations

DescrptionSourceLinks
Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs5058... DisGeNET Detail
[Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence ... DisGeNET Detail
Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs5058... DisGeNET Detail
Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs5058... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1183201 dbSNP
Genome
hg38
Position
chr6:25,823,216-25,823,216
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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))
rs1183201
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8426
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14122
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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