DisGeNET - a database of gene-disease associations

List of associated variants

Kaufman-McKusick syndrome, C0948368

Source: ALL

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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
rs74315396	MKKS	0.827	0.240	20	10413405	missense variant	T/C	snv	6.8E-05	1.1E-04	5
rs74315394	MKKS	0.851	0.440	20	10412791	missense variant	C/A	snv	5.2E-03	5.0E-03	4
rs912923677	MKKS	0.851	0.240	20	10407704	missense variant	T/C	snv	4.0E-06		4
rs281797258	MKKS	0.882	0.400	20	10413265	missense variant	G/A	snv	4.0E-06	2.4E-04	3
rs74315399	MKKS	0.925	0.240	20	10413346	missense variant	T/C	snv	2.0E-05	1.4E-05	2
rs1057516054	MKKS	1.000	0.160	20	10405626	stop gained	A/C	snv			1