DisGeNET - a database of gene-disease associations

List of associated variants

Cerebral Hemorrhage, C2937358

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
rs1052053	PMF1 ; PMF1-BGLAP	1.000	0.080	1	156232382	missense variant	A/C;G	snv	1.0E-03; 0.38		3
rs2072499	SLC25A44	1.000	0.120	1	156199819	non coding transcript exon variant	A/G	snv	0.34	0.43	3
rs2241107	SLC25A44 ; PMF1 ; PMF1-BGLAP	1.000	0.040	1	156212919	upstream gene variant	T/C;G	snv			2
rs2253677	SLC25A44	1.000	0.040	1	156201505	intron variant	C/G	snv		0.42	2
rs2758603	PMF1-BGLAP ; PMF1			1	156229203	intron variant	T/C	snv		0.37	2
rs2842870	PMF1 ; PMF1-BGLAP			1	156230880	intron variant	T/A;C	snv			2
rs2853641	SLC25A44 ; PMF1 ; PMF1-BGLAP	1.000	0.040	1	156211979	3 prime UTR variant	A/G	snv		0.43	2
rs1060604	PMF1 ; PMF1-BGLAP			1	156214477	intron variant	T/C	snv		0.30	1
rs1137703	PMF1 ; PMF1-BGLAP			1	156214667	intron variant	T/A;C	snv			1
rs11587860				1	156187160	downstream gene variant	G/C;T	snv			1
rs2241108	PMF1 ; PMF1-BGLAP ; SLC25A44			1	156211216	3 prime UTR variant	C/G	snv		0.43	1
rs2244144	PMF1-BGLAP ; PMF1			1	156214807	intron variant	G/A	snv		0.30	1
rs2248074	PMF1-BGLAP ; PMF1			1	156226097	intron variant	C/A;T	snv			1
rs2251636	PMF1 ; PMF1-BGLAP			1	156233018	intron variant	G/C	snv		0.41	1
rs2251847	PMF1 ; PMF1-BGLAP			1	156234256	intron variant	G/A	snv		0.38	1
rs2253809	SLC25A44			1	156202334	intron variant	T/C;G	snv		0.43	1
rs2266514	SLC25A44			1	156203894	intron variant	T/C	snv		0.42	1
rs2540173	PMF1 ; PMF1-BGLAP			1	156218423	intron variant	A/G	snv		0.43	1
rs2540175	PMF1 ; PMF1-BGLAP			1	156214956	intron variant	T/C	snv		0.43	1
rs2540183	SLC25A44			1	156195094	intron variant	C/G	snv		0.30	1
rs2736605	SLC25A44			1	156204684	intron variant	T/C	snv		0.42	1
rs2736609	PMF1 ; PMF1-BGLAP			1	156232849	intron variant	C/T	snv		0.34	1
rs2736613	PMF1-BGLAP ; PMF1			1	156226225	intron variant	T/C	snv		0.35	1
rs2758598	PMF1 ; PMF1-BGLAP			1	156224548	intron variant	G/A	snv		0.30	1
rs2758600	PMF1-BGLAP ; PMF1			1	156225414	intron variant	C/T	snv		0.30	1