DisGeNET - a database of gene-disease associations

List of associated variants

May-Hegglin anomaly, C0340978

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
rs80338826	MYH9	0.827	0.320	22	36305985	missense variant	G/A	snv			6
rs80338828	MYH9	0.851	0.200	22	36305975	missense variant	C/T	snv			6
rs80338829	MYH9	0.851	0.200	22	36295069	missense variant	G/A	snv			5
rs121913657	MYH9	0.882	0.160	22	36348950	missense variant	G/A	snv			4
rs80338827	MYH9	0.882	0.320	22	36305984	missense variant	C/T	snv		7.0E-06	4
rs80338831	MYH9	0.882	0.320	22	36292060	missense variant	C/A;G;T	snv			4
rs80338830	MYH9	0.925	0.160	22	36295068	missense variant	C/A	snv			3
rs80338834	MYH9	0.925	0.160	22	36284474	missense variant	C/T	snv			3
rs80338835	MYH9	0.925	0.200	22	36282754	stop gained	G/A	snv	4.0E-06	7.0E-06	3
rs782426204	F8	1.000	0.080	X	154904974	missense variant	A/G	snv	5.5E-06		2
rs121913655	MYH9	1.000	0.160	22	36348958	missense variant	G/A;C	snv	2.4E-05		2
rs797044804	MYH9	1.000	0.160	22	36291990	missense variant	T/A	snv			2
rs780187879	DNAH8			6	38852745	missense variant	A/G	snv	1.2E-05	2.1E-05	1
rs121913656	MYH9			22	36295526	missense variant	G/A	snv			1
rs200901330	MYH9			22	36295650	missense variant	A/G	snv	3.2E-04	4.3E-04	1
rs554332083	MYH9			22	36300961	missense variant	T/G	snv	1.6E-04	2.8E-05	1
rs587776808	MYH9			22	36282730	frameshift variant	C/-	delins			1
rs762773112	MYH9			22	36285158	missense variant	T/C	snv	1.6E-05	7.0E-06	1
rs76368635	MYH9			22	36292132	missense variant	G/A	snv	1.0E-03	1.2E-03	1