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	Chr	Position	Consequence	Alleles	Class	AF EXOME	Num. diseases
rs1141387	HBB	1.000	11	5226789	missense variant	C/A;G	snv		2
rs33929459	HBB	1.000	11	5226952	missense variant	C/A;G;T	snv	4.0E-06	2
rs33949869	HBB	1.000	11	5225606	missense variant	A/C;G;T	snv		2
rs33917628	HBB	1.000	11	5226623	missense variant	C/G;T	snv		1
rs33918338	HBB	1.000	11	5225611	missense variant	T/A;C;G	snv	4.0E-06	1
rs33921821	HBB	1.000	11	5225614	missense variant	G/A;T	snv		1
rs33937393	HBB	1.000	11	5226587	missense variant	T/C;G	snv		1
rs33951978	HBB	1.000	11	5226599	missense variant	T/A;G	snv		1
rs33954264	HBB	1.000	11	5225602	missense variant	T/A;C;G	snv		1
rs33954595	HBB	1.000	11	5226594	missense variant	C/A;G;T	snv		1
rs33959340	HBB	1.000	11	5226609	missense variant	C/A;G;T	snv		1
rs33961444	HBB	1.000	11	5225603	missense variant	G/A;C	snv		1
rs33965000	HBB	1.000	11	5226590	missense variant	G/A;C	snv		1
rs33971048	HBB	1.000	11	5226593	missense variant	T/A;C;G	snv		1
rs33972593	HBB	1.000	11	5226686	missense variant	A/G;T	snv		1
rs33987903	HBB	1.000	11	5226644	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06	1
rs33991993	HBB	1.000	11	5226643	missense variant	C/A;G;R;T	snv	4.0E-06	1
rs34515413	HBB	1.000	11	5226598	missense variant	G/A;C;T;Y	snv	4.8E-04	1
rs34980264	HBB	1.000	11	5225621	missense variant	C/T	snv		1
rs35020585	HBB	1.000	11	5225607	missense variant	C/A;G;T	snv	4.0E-06	1
rs35067717	HBB	1.000	11	5226580	missense variant	G/C	snv		1
rs35117167	HBB	1.000	11	5225605	missense variant	T/C	snv		1
rs35209591	HBB	1.000	11	5226586	missense variant	C/A;G;T	snv	2.8E-05	1
rs35291591	HBB	1.000	11	5225604	stop gained	A/T	snv		1
rs35351128	HBB	1.000	11	5226624	missense variant	T/G	snv		1