DisGeNET - a database of gene-disease associations

List of associated variants

Hypercholesterolemia, Familial, C0020445

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
rs2431820		1.000	0.080	19	10024608	downstream gene variant	T/C	snv		8.0E-02	1
rs10417403	C3P1	1.000	0.080	19	10061840	non coding transcript exon variant	T/A;C	snv			1
rs3745264	RAVER1	1.000	0.080	19	10318890	intron variant	C/A;G	snv			1
rs7507634	RAVER1	1.000	0.080	19	10325886	intron variant	C/T	snv		9.1E-02	1
rs2304240	ICAM3	0.882	0.200	19	10338716	synonymous variant	A/G	snv	0.81	0.85	4
rs280519	TYK2	0.752	0.320	19	10362257	splice region variant	A/C;G	snv	0.50		10
rs8112449	CDC37	0.925	0.160	19	10409388	intron variant	G/A	snv		0.31	2
rs7256672	PDE4A	1.000	0.080	19	10468798	3 prime UTR variant	T/G	snv		0.43	1
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs1529711	CARM1	1.000	0.080	19	10912758	intron variant	C/T	snv		0.13	4
rs989307060	LDLR	1.000	0.080	19	11089263	upstream gene variant	C/G	snv		2.8E-05	3
rs1555800611	LDLR	1.000	0.080	19	11089319	upstream gene variant	GGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCC/-	delins			3
rs1555800620	LDLR	1.000	0.080	19	11089356	upstream gene variant	CTCCTCC/TG	delins			1
rs878854023	LDLR	1.000	0.080	19	11089361	upstream gene variant	C/T	snv			3
rs879254363	LDLR	1.000	0.080	19	11089363	upstream gene variant	CTT/-	delins			1
rs1555800629	LDLR	1.000	0.080	19	11089377	upstream gene variant	G/A	snv			1
rs879254364	LDLR	1.000	0.080	19	11089393	upstream gene variant	C/T	snv			1
rs879254365	LDLR	1.000	0.080	19	11089394	upstream gene variant	AC/TTCTGCAAACTCCT	delins			1
rs879254367	LDLR	1.000	0.080	19	11089397	upstream gene variant	C/T	snv			1
rs1555800631	LDLR	1.000	0.080	19	11089398	upstream gene variant	C/G	snv			1
rs1555800632	LDLR	1.000	0.080	19	11089399	upstream gene variant	A/G	snv			1
rs879254370	LDLR	1.000	0.080	19	11089407	upstream gene variant	C/G;T	snv			3
rs875989887	LDLR	0.925	0.080	19	11089409	upstream gene variant	C/A;G;T	snv			3
rs879254371	LDLR	1.000	0.080	19	11089410	upstream gene variant	C/A;G	snv			1
rs387906307	LDLR	0.925	0.080	19	11089411	upstream gene variant	T/-	del			2