DisGeNET - a database of gene-disease associations

List of shared variants

Generalized hypotonia, C1858120

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
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19
rs1555639076	BPTF	0.790	0.400	17	67893677	splice donor variant	A/-	delins			16