DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs771785420 ×

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:

rs771785420

rs771785420

GAN

0.851

0.120

16

81357848

missense variant

C/G;T

snv

4.0E-06

CUI:	C2749625
Disease:	Motor axonal neuropathy

Motor axonal neuropathy

0.700

dbSNP:

rs771785420

rs771785420

GAN

0.851

0.120

16

81357848

missense variant

C/G;T

snv

4.0E-06

CUI:	C0427149
Disease:	Gait, Drop Foot

Gait, Drop Foot

0.700

dbSNP:

rs771785420

rs771785420

GAN

0.851

0.120

16

81357848

missense variant

C/G;T

snv

4.0E-06

CUI:	C0009081
Disease:	Congenital clubfoot

Congenital clubfoot

0.700

dbSNP:

rs771785420

rs771785420

GAN

0.851

0.120

16

81357848

missense variant

C/G;T

snv

4.0E-06

CUI:	C4021581
Disease:	Distal upper limb amyotrophy

Distal upper limb amyotrophy

0.700

dbSNP:

rs771785420

rs771785420

GAN

0.851

0.120

16

81357848

missense variant

C/G;T

snv

4.0E-06

CUI:	C1850386
Disease:	GIANT AXONAL NEUROPATHY 1

GIANT AXONAL NEUROPATHY 1

0.700

dbSNP:

rs771785420

rs771785420

GAN

0.851

0.120

16

81357848

missense variant

C/G;T

snv

4.0E-06

CUI:	C0036439
Disease:	Scoliosis, unspecified

Scoliosis, unspecified

0.700

dbSNP:

rs771785420

rs771785420

GAN

0.851

0.120

16

81357848

missense variant

C/G;T

snv

4.0E-06

CUI:	C1847584
Disease:	Distal sensory impairment

Distal sensory impairment

0.700

dbSNP:

rs771785420

rs771785420

GAN

0.851

0.120

16

81357848

missense variant

C/G;T

snv

4.0E-06

CUI:	C0270790
Disease:	Quadriparesis

Quadriparesis

0.700