DisGeNET - a database of gene-disease associations

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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
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	43
rs2420371	F5			1	169522317	intron variant	G/A	snv		0.95	4
rs6009	F5	1.000	0.080	1	169529596	intron variant	T/A;C	snv	0.94		3
rs6427196	F5	1.000	0.080	1	169511985	3 prime UTR variant	C/G;T	snv			3
rs1018827	F5			1	169544768	intron variant	A/G	snv		0.92	2
rs10737547				1	169506814	intergenic variant	A/G	snv		0.93	2
rs1208134	CCDC181			1	169459706	intron variant	C/T	snv		0.93	2
rs1208135	CCDC181			1	169454860	intron variant	A/G;T	snv			2
rs1208327	NME7			1	169327626	intron variant	C/G;T	snv			2
rs1209731	NME7			1	169355555	intron variant	T/C;G	snv			2
rs16861990	NME7			1	169165889	intron variant	A/C	snv		5.5E-02	2
rs1894692				1	169498416	non coding transcript exon variant	G/A	snv		0.98	2
rs2420372	F5			1	169528818	intron variant	A/G	snv		0.95	2
rs6427194	F5			1	169511883	downstream gene variant	T/A	snv		0.91	2
rs6427195	F5			1	169511938	downstream gene variant	A/C;T	snv			2
rs6427197	F5			1	169531352	intron variant	C/A	snv		0.92	2
rs6682179	F5	1.000	0.080	1	169521163	intron variant	T/A;C	snv			2
rs6687813				1	169508336	downstream gene variant	A/C	snv		0.93	2
rs6696217				1	169491488	non coding transcript exon variant	A/G	snv		0.92	2
rs970740				1	169510736	downstream gene variant	C/T	snv		0.95	2
rs10800427	NME7			1	169303213	non coding transcript exon variant	A/C;T	snv	0.96		1
rs10800428	NME7			1	169303215	non coding transcript exon variant	G/A;T	snv	0.96		1
rs10800448				1	169491168	non coding transcript exon variant	A/G	snv		0.72	1
rs114101204	LINC00970			1	169056816	intron variant	G/A	snv		1.3E-02	1
rs114964168	LINC00970			1	169063639	intron variant	C/T	snv		1.3E-02	1