DisGeNET - a database of gene-disease associations

Heart-hand syndrome, Slovenian type, C1857829

Source: ALL

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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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs11575937

rs11575937

LMNA

29

0.653

0.480

1

156136985

missense variant

G/A;T

snv

0.700

dbSNP:

rs267607582

rs267607582

LMNA

1

1.000

0.120

1

156137642

non coding transcript exon variant

T/C;G

snv

0.700

dbSNP:

rs386134243

rs386134243

LMNA

16

0.708

0.360

1

156135967

missense variant

C/A;T

snv

4.0E-06

0.700