DisGeNET - a database of gene-disease associations

Vitamin B 12 Deficiency, C0042847

Variant: rs1801131 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1801131

rs1801131

MTHFR

0.010

GeneticVariation

BEFREE

On the other hand, the MTHFR c.1286A>C variant did not show significant association with vitamin B12 deficiency in the selected population.

2018