DisGeNET - a database of gene-disease associations

Platyspondyly, C1844704

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:

rs1561002040

rs1561002040

RAB33B ; LOC107984036

4

1.000

4

139454380

frameshift variant

C/-

delins

0.700

dbSNP:

rs1565868973

rs1565868973

TRPV4

6

1.000

0.120

12

109796650

missense variant

A/T

snv

0.700

dbSNP:

rs749621890

rs749621890

EXTL3

7

0.851

0.040

8

28717012

missense variant

C/G;T

snv

4.0E-06; 4.0E-06

0.700