DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs753302494	APC	5	112767272	missense variant	T/C	snv	8.0E-06	7.0E-06	1
rs876660122	APC	5	112840683	missense variant	A/G;T	snv			1
rs143302534	ARHGEF2	1	155966447	synonymous variant	G/A	snv	3.6E-05	7.7E-05	1
rs1344215061	ARID1B	6	157196226	missense variant	C/G	snv	4.0E-06		1
rs4703533	ATG10	5	81970378	upstream gene variant	C/G	snv		0.34	1
rs78835907	ATG16L1	2	233210531	5 prime UTR variant	G/A	snv		5.1E-02	1
rs12995526	ATIC	2	215333248	intron variant	T/C	snv		0.47	1
rs1565400045	ATM	11	108259050	frameshift variant	A/-	del			1
rs1565486028	ATM	11	108307917	frameshift variant	-/G	delins			1
rs214250	AXIN1	16	298222	synonymous variant	C/G;T	snv	7.0E-06; 0.18		1
rs573226978	BAX	19	48961078	missense variant	C/T	snv	1.4E-04	9.8E-05	1
rs1241125592	BCAT1	12	24881326	missense variant	C/T	snv	4.0E-06		1
rs1296169581	BCL2L11 ; MIR4435-2HG	2	111130198	missense variant	A/G	snv		1.4E-05	1
rs12765929	BMPR1A	10	86922798	intron variant	G/A;T	snv			1
rs121913335	BRAF	7	140753375	missense variant	T/G	snv			1
rs121913336	BRAF	7	140753374	missense variant	G/C;T	snv			1
rs121913362	BRAF	7	140753359	missense variant	T/C	snv			1
rs1057522527	BRCA1	17	43076544	synonymous variant	C/T	snv			1
rs397508906	BRCA1	17	43093787	missense variant	T/C	snv			1
rs431825412	BRCA1	17	43057124	missense variant	T/A	snv			1
rs397507358	BRCA2	13	32339987	missense variant	A/G;T	snv			1
rs28362679	BTNL2 ; TSBP1-AS1	6	32396116	missense variant	G/A;C	snv	1.8E-02; 8.1E-06		1
rs2472614	C1QBP	17	5437730	intron variant	G/C;T	snv			1
rs1057519849	CASC11 ; MYC	8	127738386	missense variant	C/T	snv			1
rs1057519850	CASC11 ; MYC	8	127738447	missense variant	C/T	snv			1