DisGeNET - a database of gene-disease associations

Falls, C0085639

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:

rs1345176461

rs1345176461

IRF2BPL ; LOC107984638

40

0.716

0.240

14

77027231

stop gained

G/A;T

snv

4.3E-06

0.700

dbSNP:

rs747900252

rs747900252

COL6A2

6

0.925

0.160

21

46125776

intron variant

G/A

snv

1.1E-04

7.7E-05

0.700

dbSNP:

rs780533096

rs780533096

MIPEP

44

0.701

0.600

13

23886338

missense variant

C/G;T

snv

4.8E-06; 9.6E-06

0.700