DisGeNET - a database of gene-disease associations

Spina Bifida, C0080178

Variant: rs16939660 ×

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:

rs16939660

rs16939660

ALDH1A2

0.010

GeneticVariation

BEFREE

We determined that the SNP rs16939660, previously associated with spina bifida and observed in patients with TOF, does not affect splicing.

2009