DisGeNET - a database of gene-disease associations

List of associated variants

Pneumonia, C0032285

Source: ALL

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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
rs1555580263	SMARCD2	0.827	0.240	17	63837200	stop gained	-/AGGTAGAACCTTATCTGCCATCTTC	delins			6
rs12252	IFITM3	0.695	0.240	11	320772	splice region variant	A/G	snv	0.13	0.13	23
rs1057518733	SMARCD2	0.807	0.280	17	63837439	splice donor variant	A/G	snv			7
rs879253740	NPC2 ; ISCA2	0.882	0.240	14	74493191	splice donor variant	A/G	snv			5
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1217371203	CD86	0.882	0.120	3	122106342	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		4
rs587782477	APC	0.882	0.120	5	112775679	missense variant	A/T	snv			4
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs74597325	CFTR	0.708	0.320	7	117587811	stop gained	C/G;T	snv	6.8E-05		18
rs1412125	HMGB1	0.724	0.360	13	30467458	intron variant	C/G;T	snv			17
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs1045411	HMGB1	0.708	0.360	13	30459095	3 prime UTR variant	C/T	snv		0.20	18
rs1057518731	SMARCD2	0.807	0.280	17	63833908	splice donor variant	C/T	snv			7
rs1131692245	NPHS1	0.925	0.160	19	35844109	missense variant	C/T	snv			7
rs1057520529	FOXP3	0.851	0.320	X	49251440	missense variant	C/T	snv			5
rs5743313	TLR3	0.851	0.200	4	186079213	intron variant	C/T	snv		0.19	4
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs601338	FUT2 ; LOC105447645	0.742	0.280	19	48703417	stop gained	G/A	snv	0.38	0.45	19
rs213950	CFTR-AS1 ; CFTR	0.716	0.320	7	117559479	missense variant	G/A	snv	0.47	0.57	16
rs796051877	GAA	0.807	0.320	17	80110055	splice region variant	G/A	snv	4.0E-06		11
rs17615	CR2	0.827	0.200	1	207473117	missense variant	G/A	snv	0.26	0.31	5
rs868435969	VCP	0.925	0.280	9	35066710	missense variant	G/A	snv			3
rs17616	CR2	1.000	0.080	1	207473578	missense variant	G/A	snv	0.26	0.30	1