DisGeNET - a database of gene-disease associations

List of shared variants

Acid reflux, C4317146

Disease: Micrognathism

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
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			17
rs1563686762	RAD21 ; UTP23	0.790	0.280	8	116847620	inframe deletion	GTT/-	delins			16
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14