DisGeNET - a database of gene-disease associations

List of shared variants

MYELODYSPLASTIC SYNDROME, C3463824

Disease: Congenital chromosomal disease

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		24
rs1057520007	TP53	0.701	0.440	17	7674917	missense variant	T/A;C;G	snv			21
rs1470755915	RUNX1T1	0.776	0.240	8	92005229	missense variant	C/A	snv		7.0E-06	10
rs927698341	RUNX1T1	0.776	0.240	8	92005280	synonymous variant	C/A	snv	4.0E-06	2.8E-05	10
rs1131691041	TP53			17	7676271	frameshift variant	-/A	delins			3