DisGeNET - a database of gene-disease associations

Babinski Reflex, C0034935

Variant: rs778543124 ×

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs778543124

rs778543124

XPA

35

0.716

0.320

9

97675476

frameshift variant

AGTCTTACGGTACA/-

delins

6.8E-05

6.3E-05

0.700