DisGeNET - a database of gene-disease associations

CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO, C4479677

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:

rs1064793003

rs1064793003

SMAD6

1

15

66703925

stop gained

C/T

snv

7.0E-06

0.700

dbSNP:

rs1085307122

rs1085307122

SMAD6

1

15

66781078

frameshift variant

G/-

del

0.700

dbSNP:

rs761888345

rs761888345

SMAD6

2

1.000

15

66781437

missense variant

C/T

snv

5.6E-05

1.4E-05

0.700