DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs138320978 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs138320978

RSPH1

0.925

0.160

42493049

stop gained

C/A;T

snv

2.6E-04; 2.0E-05

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

1.000

2013

2015

dbSNP:

rs138320978

RSPH1

0.925

0.160

42493049

stop gained

C/A;T

snv

2.6E-04; 2.0E-05

CUI:	C4551906
Disease:	Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

0.700

1.000

2014

dbSNP:

rs138320978

RSPH1

0.925

0.160

42493049

stop gained

C/A;T

snv

2.6E-04; 2.0E-05

CUI:	C3809634
Disease:	CILIARY DYSKINESIA, PRIMARY, 24

CILIARY DYSKINESIA, PRIMARY, 24

0.700