DisGeNET - a database of gene-disease associations

List of associated variants

Saldino-Noonan Syndrome, C0036069

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
rs137853027	DYNC2H1	0.827	0.120	11	103220720	missense variant	A/G	snv	2.4E-04	2.6E-04	15
rs771487311	DYNC2H1	0.882	0.120	11	103255530	missense variant	T/C	snv	1.9E-05	7.0E-05	5
rs759549373	DYNC2H1	0.925	0.080	11	103253342	missense variant	G/A;T	snv	6.0E-05; 4.0E-06		4
rs181011657	DYNC2H1	0.882	0.120	11	103257719	stop gained	C/T	snv	6.8E-05	1.4E-04	3
rs1178331074	DYNC2H1	0.925	0.120	11	103129005	splice region variant	G/A	snv	4.2E-06		2
rs1261505725	DYNC2H1	0.925	0.080	11	103245376	splice donor variant	T/G	snv	5.0E-06	2.1E-05	2
rs1350329646	DYNC2H1	0.925	0.120	11	103192150	missense variant	C/A;T	snv	5.1E-06; 5.1E-06		2
rs137853031	DYNC2H1	0.925	0.120	11	103185032	missense variant	G/A	snv	4.0E-06		2
rs1555043520	DYNC2H1	0.925	0.120	11	103135630	missense variant	T/G	snv			2
rs1555051720	DYNC2H1	0.925	0.120	11	103158709	inframe insertion	-/GTCACAACA	delins			2
rs189806840	DYNC2H1	0.925	0.120	11	103155439	missense variant	C/A	snv	1.6E-03	1.8E-03	2
rs368631447	DYNC2H1	0.925	0.120	11	103253384	missense variant	C/T	snv	3.6E-05; 8.0E-06	2.8E-05	2
rs368654019	DYNC2H1	0.925	0.120	11	103479158	missense variant	A/G	snv	2.8E-05	3.5E-05	2
rs397514637	DYNC2H1	0.925	0.120	11	103117852	missense variant	C/T	snv	3.2E-05	1.4E-05	2
rs552436294	DYNC2H1	0.925	0.120	11	103177664	missense variant	G/A	snv	1.6E-05	1.1E-04	2
rs562139820	DYNC2H1	0.925	0.120	11	103257731	stop gained	C/T	snv		1.4E-05	2
rs746195428	DYNC2H1	0.925	0.120	11	103192219	missense variant	G/A;C	snv	4.1E-06		2
rs771511132	DYNC2H1	0.925	0.120	11	103116573	missense variant	T/A	snv	1.3E-05	4.9E-05	2
rs776407305	DYNC2H1	0.925	0.120	11	103223087	splice donor variant	G/A	snv			2
rs193204571	WDR60	0.925	0.120	7	158926234	missense variant	G/A	snv	4.0E-05		2
rs1043384862	DYNC2H1	1.000	0.080	11	103165911	missense variant	C/T	snv			1
rs1060501431	DYNC2H1	1.000	0.080	11	103209878	missense variant	A/G	snv	9.0E-06	7.0E-06	1
rs1202784860	DYNC2H1	1.000	0.080	11	103177653	missense variant	T/A;C	snv			1
rs1214801816	DYNC2H1	1.000	0.080	11	103199458	missense variant	C/G;T	snv		7.0E-06	1
rs1243999036	DYNC2H1	1.000	0.080	11	103184992	missense variant	C/T	snv	4.0E-06		1