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	DSI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121908937	LCT		2	135829593	missense variant	C/G	snv			1
rs386833833	LCT		2	135807214	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs121964907	AGA		4	177440375	missense variant	C/T	snv			1
rs121964906	AGA		4	177433238	missense variant	A/G	snv	4.0E-06		1
rs121964905	AGA		4	177433250	missense variant	C/T	snv			1
rs121964909	AGA		4	177440340	missense variant	A/G	snv			1
rs386833432	AGA		4	177434434	missense variant	C/G	snv			1
rs386833433	AGA		4	177434433	missense variant	C/T	snv	4.0E-06		1
rs386833421	AGA		4	177439671	missense variant	C/T	snv	4.0E-06		1
rs121964908	AGA		4	177439668	missense variant	G/A	snv	4.0E-06		1
rs192195150	AGA		4	177438770	missense variant	C/T	snv	8.1E-04	5.5E-04	1
rs386833434	AGA		4	177434418	missense variant	G/A	snv	8.0E-06		1
rs386833427	AGA		4	177438848	missense variant	A/G	snv		7.0E-06	1
rs121964904	AGA		4	177438764	missense variant	C/G	snv	7.8E-04	5.4E-04	1
rs74626221	AGA ; LOC285500		4	177442342	missense variant	C/A;G	snv	1.4E-02; 2.0E-05		1
rs72653169	COL1A1	1.000	17	50188920	missense variant	C/T	snv			1
rs66721653	COL1A1	1.000	17	50195665	missense variant	C/A;T	snv			1
rs72651636	COL1A1	1.000	17	50191868	missense variant	C/T	snv			1
rs72648353	COL1A1	1.000	17	50194384	missense variant	C/A	snv			1
rs72658147	COL1A2	1.000	7	94417761	missense variant	G/T	snv			1
rs72656376	COL1A2	1.000	7	94407856	missense variant	G/C	snv			1
rs72648322	COL1A1	1.000	17	50195330	missense variant	C/A;T	snv			1
rs72656395	COL1A2	1.000	7	94409760	missense variant	G/A	snv			1
rs72654796	COL1A1	1.000	17	50188556	missense variant	C/T	snv			1
rs72658183	COL1A2	1.000	7	94421010	missense variant	G/T	snv			1