DisGeNET - a database of gene-disease associations

Xeroderma Pigmentosum, Complementation Group D, C0268138

Variant: rs752510317 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs752510317

rs752510317

ERCC2

0.710

GeneticVariation

BEFREE

Two other cases of severe XP-D/CS (XP group D/CS), XP1JI (p.[G47R];[0]) and XPCS1PV (p.[R666W];[0]), died at ages <2 years.

2015

dbSNP:

rs752510317

rs752510317

ERCC2

0.710

GeneticVariation

UNIPROT