chr15:79862640:C>T Detail (hg38) (MTHFS, ST20-MTHFS)

Information

Genome

Assembly Position
hg19 chr15:80,154,982-80,154,982 View the variant detail on this assembly version.
hg38 chr15:79,862,640-79,862,640

HGVS

Type Transcript Protein
RefSeq NM_006441.3:c.380-17198G>A
NM_001199758.1:c.467-17198G>A
Ensemble ENST00000258874.4:c.380-17198G>A
Type Transcript Protein
RefSeq NM_001199760.1:c.308-17198G>A
Ensemble ENST00000479961.1:c.308-17198G>A
ENST00000615374.5:c.308-17198G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.169
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 604197 OMIM
HGNC 7437 HGNC
Ensembl ENSG00000136371 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53687967 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 44655 HGNC
Ensembl ENSG00000259332 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53687967 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
0.009 Chronic Kidney Diseases Borderline significant associations of rs6495446 were observed with CKD at study... BeFree 18522750 Detail
0.003 Kidney Diseases Borderline significant associations of rs6495446 were observed with CKD at study... BeFree 18522750 Detail
Annotation

Annotations

DescrptionSourceLinks
Borderline significant associations of rs6495446 were observed with CKD at study visit 1 (p = 0.024)... DisGeNET Detail
Borderline significant associations of rs6495446 were observed with CKD at study visit 1 (p = 0.024)... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6495446 dbSNP
Genome
hg38
Position
chr15:79,862,640-79,862,640
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))
rs6495446
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1689
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2830
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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