DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: CDK13 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs878853160	CDK13	0.882	0.120	7	40046007	missense variant	A/G	snv			5
rs1057519632	CDK13	1.000		7	39999467	missense variant	G/A	snv			2
rs1057519634	CDK13	1.000		7	40001930	missense variant	G/A	snv			1
rs1562722163	CDK13	1.000		7	40001924	missense variant	C/A	snv			1
rs1057519633	CDK13	1.000		7	39999458	missense variant	G/C	snv			1