DisGeNET - a database of gene-disease associations

List of associated variants

Recurrent pneumonia, C0694550

Source: CLINVAR ×

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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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs1178187217	DNAH11	0.683	0.480	7	21600085	missense variant	G/A;T	snv	4.3E-06		38
rs201943194	DNAH11	0.683	0.480	7	21710596	stop gained	C/T	snv	8.5E-05	8.4E-05	38
rs1555269154	GNPTAB	0.851	0.280	12	101761307	frameshift variant	-/CTTTGTGA	delins			7
rs112543062	GNPTAB	0.851	0.280	12	101770161	missense variant	T/C;G	snv	1.2E-05		6
rs1060499679	GNPTAB	0.851	0.280	12	101770496	inframe deletion	GTG/-	delins			5
rs750240374	GNPTAB	0.882	0.240	12	101766103	missense variant	C/T	snv	8.0E-06	7.0E-06	5