chr1:205793278:C>T Detail (hg38) (SLC41A1)

Information

Genome

Assembly Position
hg19 chr1:205,762,406-205,762,406 View the variant detail on this assembly version.
hg38 chr1:205,793,278-205,793,278

HGVS

Type Transcript Protein
RefSeq NM_173854.5:c.1357-1560G>A
Ensemble ENST00000367137.4:c.1357-1560G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 610801 OMIM
HGNC 19429 HGNC
Ensembl ENSG00000133065 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4547195 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 Diabetes Mellitus, Non-Insulin-Dependent Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ... BeFree 25733456 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ... BeFree 25733456 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ... BeFree 25733456 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ... BeFree 25733456 Detail
Annotation

Annotations

DescrptionSourceLinks
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ... DisGeNET Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ... DisGeNET Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ... DisGeNET Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs823154 dbSNP
Genome
hg38
Position
chr1:205,793,278-205,793,278
Variant Type
snv
Reference Allele
C
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))
rs823154
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0005
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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