DisGeNET - a database of gene-disease associations

List of associated variants

Immunologic Deficiency Syndromes, C0021051

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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs1555257073	POMP	0.827	0.120	13	28672407	frameshift variant	AT/-	delins			25
rs1131691021	TP53	0.716	0.120	17	7675097	missense variant	A/C;G	snv			21
rs3218716	MYH7	0.716	0.280	14	23425316	missense variant	C/A;G;T	snv	4.0E-06; 2.4E-05		17
rs74315329	MYOC ; MYOCOS	0.732	0.240	1	171636338	stop gained	G/A	snv	1.1E-03	8.7E-04	15
rs28931594	GJB2	0.790	0.280	13	20189434	missense variant	C/A;T	snv			9
rs778036161	RUNX1T1	0.776	0.080	8	92017363	missense variant	T/C	snv	8.0E-06		9
rs1015164	CCRL2	0.925		3	46410189	intron variant	A/C;G;T	snv			8
rs1482518887	RUNX1	0.790	0.040	21	34887018	missense variant	C/T	snv		7.0E-06	8
rs1555119899	ATM ; C11orf65	0.925	0.240	11	108326149	missense variant	G/C	snv			7
rs1555908409	RAC2	0.851	0.160	22	37232842	missense variant	C/T	snv			7
rs28399499	CYP2B6	0.827	0.280	19	41012316	missense variant	T/C	snv	5.1E-03	2.2E-02	6
rs3211371	CYP2B6	0.827	0.080	19	41016810	missense variant	C/A;T	snv	1.2E-04; 8.8E-02		6
rs8177832	APOBEC3G	0.851	0.160	22	39081561	missense variant	A/G	snv	5.9E-02	0.14	5
rs1057518965	ATM	0.882	0.320	11	108244812	frameshift variant	A/-	delins			5
rs1188975135	APOBEC3C ; APOBEC3F	0.882	0.040	22	39017772	missense variant	T/C	snv	4.0E-06		4
rs128620185	BTK	0.882	0.240	X	101375202	missense variant	C/T	snv			4
rs2227513	LOC105369818 ; IL22	1.000	0.080	12	68253559	intron variant	T/C	snv		0.15	3