DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 ×

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:

rs1030062

0.925

0.040

147707185

intergenic variant

T/C

snv

4.0E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1046774

ZMAT1

0.925

0.040

101882824

3 prime UTR variant

G/A;T

snv

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs11096128

0.925

0.040

144414767

intergenic variant

A/C

snv

9.6E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs12833832

FRMPD4

0.925

0.040

12167922

intron variant

G/A

snv

0.13

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs13343081

DGAT2L6

0.925

0.040

70187606

intron variant

T/A

snv

8.6E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1413151

USP26

0.925

0.040

133083032

intron variant

T/C

snv

3.0E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs16997125

0.925

0.040

5222618

intergenic variant

A/T

snv

5.0E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1900761

0.925

0.040

5085732

intergenic variant

A/G

snv

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs2367177

ZDHHC15

0.925

0.040

75397653

intron variant

T/C

snv

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs2369513

0.925

0.040

87052718

intergenic variant

G/T

snv

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs2380274

0.925

0.040

122097399

intergenic variant

G/A

snv

3.0E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs4825980

0.925

0.040

79502761

intergenic variant

A/G

snv

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs4830580

PUDP

0.925

0.040

7067653

intron variant

C/A

snv

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs5922761

0.925

0.040

83022702

intergenic variant

C/T

snv

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs5942618

TMEM164

0.925

0.040

110016450

intron variant

G/A

snv

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs5974155

XACT

0.925

0.040

113865412

intron variant

C/T

snv

0.23

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs6641173

0.925

0.040

149261133

intergenic variant

C/G

snv

0.55

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs11089671

0.925

0.040

34434612

intergenic variant

A/C;G;T

snv

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs140147

ASCC2

0.925

0.040

29788610

3 prime UTR variant

G/A

snv

0.25

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs17629956

GUSBP11

0.925

0.040

23708284

intron variant

C/A

snv

0.18

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs17653487

ATXN10

0.925

0.040

45803452

intron variant

G/T

snv

8.5E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs1978060

TBX1

0.925

0.040

19762002

intron variant

A/G

snv

0.64

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2019

dbSNP:

rs3091344

CYB5R3

0.925

0.040

42632475

non coding transcript exon variant

A/G

snv

9.7E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs41441744

SLC5A4 ; SLC5A4-AS1

0.925

0.040

32260574

intron variant

G/A

snv

1.9E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018

dbSNP:

rs41520848

SLC5A4 ; CPSF1P1 ; SLC5A4-AS1

0.925

0.040

32269392

non coding transcript exon variant

C/T

snv

4.7E-02

CUI:	C1837461
Disease:	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

1.000

2018