DisGeNET - a database of gene-disease associations

List of associated variants

ANOPHTHALMIA AND PULMONARY HYPOPLASIA, C1832661

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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs1800796	IL6-AS1 ; STEAP1B ; IL6	0.555	0.760	7	22726627	non coding transcript exon variant	G/C	snv		9.9E-02	74
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs10936599	MYNN	0.637	0.600	3	169774313	synonymous variant	C/T	snv	0.29	0.21	32
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			28
rs2057482	HIF1A-AS2 ; HIF1A-AS3 ; HIF1A	0.701	0.440	14	61747130	3 prime UTR variant	T/C	snv	0.84	0.80	21
rs6136	SELP	0.752	0.440	1	169594713	missense variant	T/G	snv	8.2E-02	7.5E-02	17
rs1130233	AKT1	0.742	0.480	14	104773557	synonymous variant	C/T	snv	0.30	0.23	13
rs1284806277	MOK	0.827	0.200	14	102251978	missense variant	A/G	snv		1.4E-05	13
rs80358972	BRCA2	0.742	0.480	13	32356472	stop gained	C/A;T	snv	8.0E-06; 3.2E-05		12
rs746284240	MDM2	0.763	0.240	12	68809243	missense variant	A/G	snv			11
rs1322648460	LOC100507144 ; CD44	0.776	0.320	11	35139332	frameshift variant	G/-	delins			9
rs10273639	PRSS1	0.776	0.280	7	142749077	upstream gene variant	T/A;C	snv			9
rs1037189404	MUC1	0.776	0.280	1	155187519	missense variant	C/T	snv			8
rs766333007	MUC1	0.776	0.280	1	155192274	missense variant	C/T	snv		7.0E-06	8
rs121909235	PTEN	0.851	0.240	10	87957919	missense variant	G/A	snv			8
rs9420907	STN1	0.790	0.320	10	103916707	intron variant	C/A;G	snv			7
rs1561927	LINC00824	0.807	0.280	8	128555832	intron variant	C/T	snv		0.65	6
rs7675998		0.827	0.360	4	163086668	intergenic variant	A/G;T	snv			5