DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs886039900 ×

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:

rs886039900

AHDC1

0.925

0.320

27549887

frameshift variant

C/-

delins

CUI:	C0541764
Disease:	Delayed bone age

Delayed bone age

0.700

dbSNP:

rs886039900

AHDC1

0.925

0.320

27549887

frameshift variant

C/-

delins

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

dbSNP:

rs886039900

AHDC1

0.925

0.320

27549887

frameshift variant

C/-

delins

CUI:	C0239137
Disease:	Coxa valga

Coxa valga

0.700

dbSNP:

rs886039900

AHDC1

0.925

0.320

27549887

frameshift variant

C/-

delins

CUI:	C4014419
Disease:	AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome

AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome

0.700

dbSNP:

rs886039900

AHDC1

0.925

0.320

27549887

frameshift variant

C/-

delins

CUI:	C0432103
Disease:	Submucous cleft of hard palate

Submucous cleft of hard palate

0.700

dbSNP:

rs886039900

AHDC1

0.925

0.320

27549887

frameshift variant

C/-

delins

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

dbSNP:

rs886039900

AHDC1

0.925

0.320

27549887

frameshift variant

C/-

delins

CUI:	C0040433
Disease:	Tooth Crowding

Tooth Crowding

0.700

dbSNP:

rs886039900

AHDC1

0.925

0.320

27549887

frameshift variant

C/-

delins

CUI:	C0019294
Disease:	Hernia, Inguinal

Hernia, Inguinal

0.700