DisGeNET - a database of gene-disease associations

Sperm tail anomaly, C4022699

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:

rs1562372417

rs1562372417

ARMC2

2

1.000

0.040

6

108904406

splice donor variant

G/A

snv

0.700

dbSNP:

rs199671406

rs199671406

WDR66

4

0.925

0.040

12

121921636

stop gained

G/T

snv

1.0E-03

9.6E-04

0.700

dbSNP:

rs749163856

rs749163856

WDR66

3

0.925

0.040

12

121921425

frameshift variant

A/-

delins

8.0E-06

0.700