DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057518972 ×

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:

rs1057518972

rs1057518972

TRPS1

0.827

0.200

8

115418359

missense variant

C/T

snv

CUI:	C1860823
Disease:	Trichorhinophalangeal Syndrome, Type III

Trichorhinophalangeal Syndrome, Type III

0.800

1.000

2008

2017

dbSNP:

rs1057518972

rs1057518972

TRPS1

0.827

0.200

8

115418359

missense variant

C/T

snv

CUI:	C0432233
Disease:	Trichorhinophalangeal dysplasia type I

Trichorhinophalangeal dysplasia type I

0.700

1.000

2008

2017

dbSNP:

rs1057518972

rs1057518972

TRPS1

0.827

0.200

8

115418359

missense variant

C/T

snv

CUI:	C0221357
Disease:	Brachydactyly

Brachydactyly

0.700

dbSNP:

rs1057518972

rs1057518972

TRPS1

0.827

0.200

8

115418359

missense variant

C/T

snv

CUI:	C1853482
Disease:	Pear-shaped nose

Pear-shaped nose

0.700

dbSNP:

rs1057518972

rs1057518972

TRPS1

0.827

0.200

8

115418359

missense variant

C/T

snv

CUI:	C0002171
Disease:	Alopecia Areata

Alopecia Areata

0.700

dbSNP:

rs1057518972

rs1057518972

TRPS1

0.827

0.200

8

115418359

missense variant

C/T

snv

CUI:	C0878660
Disease:	Proportionate short stature

Proportionate short stature

0.700