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
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs1057524820	SCN8A	0.776	0.280	12	51765746	missense variant	G/A;T	snv			33
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs1057518921	MED12	1.000		X	71132465	missense variant	G/A	snv			7
rs1557024919	HUWE1	0.925	0.240	X	53634235	splice donor variant	C/G	snv			7
rs1557036757	HUWE1	0.925	0.240	X	53647375	missense variant	G/A	snv			7
rs1557106484	ATRX			X	77633315	missense variant	C/A	snv			7
rs1556912828	HUWE1	0.925	0.280	X	53536209	missense variant	G/C	snv			6
rs375761808	ARID1A	0.925	0.160	1	26775673	missense variant	A/G;T	snv	4.0E-06		6
rs1553632357	CTNNB1	0.882	0.120	3	41236421	stop gained	G/T	snv			5
rs587779388	AP4B1 ; AP4B1-AS1	1.000		1	113898755	frameshift variant	GT/-	delins	1.4E-04	1.5E-04	5