DisGeNET - a database of gene-disease associations

List of associated variants

Abdominal Pain, C0000737

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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			30
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins			26
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv			18
rs148636776	ATXN2 ; SH2B3	0.790	0.280	12	111447491	missense variant	G/A	snv	1.5E-04	2.4E-04	18
rs28940580	MEFV	0.742	0.560	16	3243447	missense variant	C/A;G;T	snv	1.0E-04; 8.0E-06		17
rs224222	MEFV	0.724	0.440	16	3254463	missense variant	C/T	snv	0.24	0.21	15
rs6795970	SCN10A	0.807	0.200	3	38725184	missense variant	A/G	snv	0.65	0.70	13
rs1555738475	STK11	0.776	0.400	19	1220707	frameshift variant	G/-	delins			12
rs8133052	CBR3 ; CBR3-AS1	0.925	0.120	21	36135203	missense variant	G/A;C	snv	0.44		6
rs11466023	MEFV	0.827	0.320	16	3249586	missense variant	G/A;T	snv	1.5E-02; 4.0E-05		6
rs1057518886	HMBS			11	119090043	frameshift variant	C/-	delins			5
rs1057518806	HMBS	1.000	0.040	11	119093155	frameshift variant	G/-	del			4
rs1554995260	SERPING1	1.000	0.120	11	57602098	frameshift variant	-/T	delins			3