DisGeNET - a database of gene-disease associations

Senior-Loken Syndrome 1, C4551559

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:

rs121918244

rs121918244

IQCB1

4

0.882

0.200

3

121781772

stop gained

G/A

snv

6.8E-05

1.1E-04

0.700

dbSNP:

rs140511594

rs140511594

TTC21B ; TTC21B-AS1

13

0.742

0.360

2

165941111

missense variant

G/A

snv

1.3E-04

1.1E-04

0.700

dbSNP:

rs753627675

rs753627675

TTC21B

1

1.000

0.200

2

165929748

splice acceptor variant

C/G

snv

1.6E-05

7.0E-06

0.700