DisGeNET - a database of gene-disease associations

List of associated variants

Chandler syndrome, C0544008

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
rs532728316	SLC4A11	0.882	0.080	20	3230205	missense variant	C/T	snv	1.0E-04	3.5E-05	3
rs767468885	DNAH8	0.925	0.080	6	38761702	missense variant	G/A	snv	5.5E-06	7.0E-06	2
rs121909387	SLC4A11	0.925	0.080	20	3228684	missense variant	C/T	snv	4.0E-06		2
rs121909388	SLC4A11	0.925	0.080	20	3230258	missense variant	G/A	snv	1.2E-05	7.0E-06	2
rs121909389	SLC4A11	0.925	0.080	20	3230587	missense variant	C/T	snv	4.0E-06		2
rs121909391	SLC4A11	0.925	0.080	20	3228260	missense variant	G/A	snv	8.0E-06		2
rs121909392	SLC4A11	0.925	0.080	20	3228259	missense variant	C/T	snv	1.2E-05		2
rs121909390	SLC4A11	1.000	0.040	20	3229430	stop gained	G/A;C	snv	1.2E-05; 4.0E-06	1.4E-05	1
rs869320617	SLC4A11	1.000	0.040	20	3229017	intron variant	GCAGACGGGCA/CCGGCCGGCC	delins			1
rs869320720	SLC4A11	1.000	0.040	20	3234298	frameshift variant	CTTT/-	delins			1