DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs387907145 ×

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:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0036857
Disease:	Severe intellectual disability

Severe intellectual disability

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C1836543
Disease:	Thick vermilion border

Thick vermilion border

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0036439
Disease:	Scoliosis, unspecified

Scoliosis, unspecified

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C4025165
Disease:	Cutaneous syndactyly between fingers 2 and 5

Cutaneous syndactyly between fingers 2 and 5

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0221352
Disease:	Syndactyly of fingers

Syndactyly of fingers

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C4025701
Disease:	Abnormality of the cerebral cortex

Abnormality of the cerebral cortex

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0575802
Disease:	Small hand

Small hand

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C1849340
Disease:	Long palpebral fissure

Long palpebral fissure

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0042798
Disease:	Low Vision

Low Vision

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C1842366
Disease:	Low anterior hairline

Low anterior hairline

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C4022765
Disease:	Abnormality of the subarachnoid space

Abnormality of the subarachnoid space

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C4022735
Disease:	Cerebral white matter atrophy

Cerebral white matter atrophy

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C4020847
Disease:	Abnormality of pelvic girdle bone morphology

Abnormality of pelvic girdle bone morphology

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0406740
Disease:	Kohlschutter Tonz syndrome

Kohlschutter Tonz syndrome

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C1861324
Disease:	Short philtrum

Short philtrum

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C1853487
Disease:	Thick eyebrow

Thick eyebrow

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0431447
Disease:	Synophrys

Synophrys

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C4025724
Disease:	Abnormality of the cerebral ventricles

Abnormality of the cerebral ventricles

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C1845847
Disease:	Coarse facial features

Coarse facial features

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C0026838
Disease:	Muscle Spasticity

Muscle Spasticity

0.700

dbSNP:

rs387907145

ROGDI

0.695

0.440

4800548

stop gained

G/A

snv

CUI:	C4020870
Disease:	Abnormality of the hip joint

Abnormality of the hip joint

0.700