chr1:11801739:A>G Detail (hg38) (MTHFR)

Information

Genome

Assembly Position
hg19 chr1:11,861,796-11,861,796 View the variant detail on this assembly version.
hg38 chr1:11,801,739-11,801,739

HGVS

Type Transcript Protein
RefSeq NM_005957.4:c.237-340T>C
Ensemble ENST00000376583.7:c.360-340T>C
ENST00000376585.6:c.360-340T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607093 OMIM
HGNC 7436 HGNC
Ensembl ENSG00000177000 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv296888191 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
0.204 rheumatoid arthritis In this study, the six polymorphisms associated with rheumatoid arthritis (RA), ... BeFree 17985847 Detail
0.016 rheumatoid arthritis In this study, the six polymorphisms associated with rheumatoid arthritis (RA), ... BeFree 17985847 Detail
0.020 rheumatoid arthritis In this study, the six polymorphisms associated with rheumatoid arthritis (RA), ... BeFree 17985847 Detail
Annotation

Annotations

DescrptionSourceLinks
In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2... DisGeNET Detail
In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2... DisGeNET Detail
In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs149064073 dbSNP
Genome
hg38
Position
chr1:11,801,739-11,801,739
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser