DisGeNET - a database of gene-disease associations

List of associated variants

Myeloid Leukemia, Chronic, C0023473

Source: ALL

Results per page

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
rs1483790387	TMED7-TICAM2 ; TMED7	0.925	0.120	5	115625762	missense variant	C/A	snv			2
rs1414109649	PRKAA1	1.000	0.080	5	40765164	missense variant	A/G	snv	4.0E-06		1
rs628031	SLC22A1	0.807	0.280	6	160139813	missense variant	A/C;G	snv	5.3E-05; 0.63		8
rs683369	SLC22A1	0.807	0.360	6	160130172	missense variant	G/A;C;T	snv	4.0E-06; 0.83; 4.0E-06		7
rs1208076129	POU5F1 ; TCF19	0.925	0.120	6	31164861	stop gained	G/A	snv	4.1E-06	2.1E-05	2
rs1487152821	COL11A2	1.000	0.080	6	33180274	missense variant	G/A	snv		7.0E-06	1
rs281860566	HLA-C ; HLA-B	1.000	0.080	6	31270339	missense variant	C/T	snv			1
rs6931104	ARMT1	1.000	0.080	6	151465042	intron variant	G/A	snv		0.54	1
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs776746	CYP3A5 ; ZSCAN25	0.724	0.400	7	99672916	splice acceptor variant	T/C	snv		0.72	21
rs121913370	BRAF	0.763	0.360	7	140753393	missense variant	T/C;G	snv			10
rs760454379	IKZF1	1.000	0.080	7	50400082	missense variant	G/A	snv	1.6E-05	7.0E-06	1
rs568887534	DCTN6	0.807	0.240	8	30183156	missense variant	A/G	snv	4.0E-06		9
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs1239681664	ABCA1	0.716	0.320	9	104818690	synonymous variant	A/G	snv		7.0E-06	15
rs12343867	INSL6 ; JAK2	0.790	0.200	9	5074189	intron variant	T/C	snv		0.25	9
rs387906517	ABL1	0.827	0.120	9	130862919	missense variant	G/A	snv			6
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5
rs121913461	ABL1	0.851	0.120	9	130862970	missense variant	T/C	snv			5
rs1057519773	ABL1	0.851	0.160	9	130872901	missense variant	T/A;C;G	snv			4