DisGeNET - a database of gene-disease associations

List of associated variants

Diabetes Mellitus, Insulin-Dependent, C0011854

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
rs4678	VARS2	0.925	0.200	6	30926164	missense variant	G/A	snv	0.14	0.15	2
rs28485846	UNC5D	0.807	0.240	8	35265058	intron variant	C/T	snv		5.1E-02	7
rs1893592	UBASH3A	0.742	0.280	21	42434957	missense variant	A/C;G	snv	0.27; 8.0E-06		12
rs11203203	UBASH3A	0.807	0.240	21	42416077	intron variant	G/A	snv		0.28	9
rs3788013	UBASH3A	0.851	0.240	21	42421219	intron variant	C/A	snv		0.44	5
rs9976767	UBASH3A	0.882	0.200	21	42416281	intron variant	A/G	snv		0.45	3
rs11203202	UBASH3A	1.000	0.120	21	42405248	intron variant	C/G;T	snv			1
rs883868	UBASH3A	1.000	0.120	21	42424983	intron variant	T/C	snv		0.48	1
rs34536443	TYK2	0.667	0.400	19	10352442	missense variant	G/C	snv	2.7E-02	2.8E-02	25
rs2304256	TYK2	0.732	0.360	19	10364976	missense variant	C/A	snv	0.27	0.23	13
rs12720356	TYK2	0.752	0.360	19	10359299	missense variant	A/C;G	snv	6.1E-02; 4.0E-06		12
rs6910071	TSBP1 ; TSBP1-AS1	0.790	0.320	6	32315077	intron variant	A/G	snv		0.14	7
rs6906662	TSBP1 ; TSBP1-AS1	0.882	0.200	6	32298729	intron variant	G/A	snv		6.8E-02	6
rs3129941	TSBP1 ; TSBP1-AS1	0.882	0.240	6	32369909	missense variant	A/G;T	snv	0.81		3
rs6457536	TSBP1 ; TSBP1-AS1	0.882	0.200	6	32305988	intron variant	A/G	snv		0.21	3
rs2050189	TSBP1 ; TSBP1-AS1	0.925	0.200	6	32371870	5 prime UTR variant	T/C;G	snv		0.18	2
rs2076537	TSBP1 ; TSBP1-AS1	0.925	0.200	6	32349858	non coding transcript exon variant	G/A	snv	0.37	0.42	2
rs2395150	TSBP1 ; TSBP1-AS1	0.925	0.200	6	32358268	intron variant	G/A	snv		0.51	2
rs3129934	TSBP1 ; TSBP1-AS1	0.925	0.160	6	32368410	intron variant	T/C	snv		0.83	2
rs1265759	TSBP1 ; TSBP1-AS1	1.000	0.120	6	32354616	intron variant	C/T	snv		0.47	1
rs910049	TSBP1-AS1 ; TSBP1	0.776	0.400	6	32347950	intron variant	T/C	snv		0.76	8
rs7775397	TSBP1-AS1 ; TSBP1	0.790	0.400	6	32293475	missense variant	T/G	snv	6.0E-02	6.4E-02	7
rs3129939	TSBP1-AS1 ; TSBP1	0.827	0.360	6	32368989	intron variant	A/G	snv		0.14	5
rs926070	TSBP1-AS1 ; TSBP1	0.827	0.320	6	32289789	intron variant	G/A	snv		0.68	5
rs3129943	TSBP1-AS1 ; TSBP1	0.851	0.240	6	32370918	intron variant	A/G	snv		0.26	4