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
rs1057519874	RAC1	0.807	0.120	7	6387261	missense variant	C/A;T	snv			9
rs10951982	RAC1	0.851	0.160	7	6382925	intron variant	G/A;T	snv			5
rs1057519948	RAC1	0.851	0.120	7	6387262	missense variant	C/T	snv			4
rs12536544	RAC1	0.882	0.080	7	6396270	intron variant	G/A	snv		0.23	3
rs836489	RAC1	0.882	0.040	7	6379042	intron variant	T/G	snv		0.62	3
rs1554263624	RAC1	0.925	0.120	7	6391932	missense variant	A/G	snv			2
rs1554264268	RAC1	0.925	0.120	7	6402337	missense variant	G/A	snv			2
rs6954996	RAC1	0.925	0.080	7	6401627	non coding transcript exon variant	G/A;T	snv			2
rs702483	RAC1	0.925	0.080	7	6387310	intron variant	C/A;T	snv	0.54		2
rs79237498	RAC1			7	6397234	intron variant	-/T;TT	delins			2
rs836488	RAC1	0.925	0.080	7	6380162	intron variant	C/T	snv		0.13	2
rs9374	RAC1	0.925	0.080	7	6402740	3 prime UTR variant	G/A	snv		0.18	2
rs1554263326	RAC1	1.000		7	6387229	missense variant	G/A	snv			1
rs1554263625	RAC1	1.000		7	6391967	missense variant	G/A;C	snv			1
rs1554263626	RAC1	1.000		7	6392006	missense variant	T/G	snv			1
rs35589149	RAC1			7	6386642	intron variant	G/C	snv		0.15	1
rs35761891	RAC1			7	6398586	intron variant	A/G	snv		3.6E-02	1
rs4720672	RAC1	1.000	0.040	7	6404208	downstream gene variant	T/C	snv		0.14	1
rs7784465	RAC1			7	6378644	intron variant	T/C	snv		0.15	1
rs836474	RAC1	1.000	0.040	7	6394456	intron variant	G/T	snv		0.13	1