DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1562931936 ×

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:

rs1562931936

rs1562931936

KMT2E

1.000

7

105107527

stop gained

C/T

snv

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.700

dbSNP:

rs1562931936

rs1562931936

KMT2E

1.000

7

105107527

stop gained

C/T

snv

CUI:	C0026826
Disease:	Muscle Hypertonia

Muscle Hypertonia

0.700

dbSNP:

rs1562931936

rs1562931936

KMT2E

1.000

7

105107527

stop gained

C/T

snv

CUI:	C0270612
Disease:	Leukoencephalopathy

Leukoencephalopathy

0.700

dbSNP:

rs1562931936

rs1562931936

KMT2E

1.000

7

105107527

stop gained

C/T

snv

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

dbSNP:

rs1562931936

rs1562931936

KMT2E

1.000

7

105107527

stop gained

C/T

snv

CUI:	C0683322
Disease:	Mental impairment

Mental impairment

0.700