DisGeNET - a database of gene-disease associations

List of associated variants

Birth Weight, C0005612

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
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs10830963	MTNR1B	0.776	0.400	11	92975544	intron variant	C/G	snv		0.22	27
rs560887	SPC25 ; G6PC2	0.827	0.120	2	168906638	intron variant	T/C	snv	0.79	0.80	18
rs3918226	NOS3	0.925	0.080	7	150993088	intron variant	C/T	snv		5.7E-02	12
rs516246	FUT2 ; LOC105447645	0.925	0.160	19	48702915	intron variant	C/T	snv	0.38	0.45	10
rs11708067	ADCY5	0.882	0.080	3	123346931	intron variant	A/G	snv		0.19	9
rs45446698	CYP3A7-CYP3A51P ; CYP3A7 ; ZSCAN25	0.807	0.120	7	99735325	upstream gene variant	T/G	snv		2.7E-02	9
rs17367504	MTHFR	1.000	0.040	1	11802721	intron variant	A/G	snv		0.14	9
rs10814916	GLIS3	0.851	0.200	9	4293150	intron variant	A/C	snv		0.57	7
rs1042725	HMGA2	0.882	0.080	12	65964567	3 prime UTR variant	C/T	snv		0.48	7
rs8756	HMGA2	0.882	0.200	12	65965972	3 prime UTR variant	C/A	snv		0.56	7
rs900400	LINC02029	0.925	0.080	3	157080986	upstream gene variant	T/C	snv		0.36	7
rs9366778	LINC02571 ; LOC112267902 ; HLA-B	0.925	0.120	6	31301396	intron variant	G/A	snv		0.47	7
rs2168101	LMO1 ; LOC105376536	0.827	0.200	11	8233861	intron variant	C/A	snv		0.24	7
rs3740360	PLCE1	0.827	0.240	10	94265734	intron variant	A/C	snv	9.7E-02	8.4E-02	7
rs5742915	PML	0.925	0.080	15	74044292	missense variant	T/C;G	snv	0.35; 4.0E-06		7
rs11082304	CABLES1			18	23141009	intron variant	G/C;T	snv			6
rs76895963	CCND2-AS1 ; CCND2	1.000	0.080	12	4275678	intron variant	T/G	snv		1.5E-02	6
rs2274224	PLCE1-AS1 ; PLCE1	0.882	0.080	10	94279840	missense variant	G/A;C	snv	8.8E-05; 0.44		6
rs9379084	RREB1	0.882	0.160	6	7231610	missense variant	G/A	snv	0.11	8.9E-02	6
rs72681869	SOS2			14	50188639	missense variant	G/A;C	snv	4.0E-06; 4.1E-03		6
rs10173538	BAZ2B ; MARCHF7			2	159712765	intron variant	C/G;T	snv			5