DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Cerebellar Ataxia

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
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05		17
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs1554904159	BRSK2 ; LOC107984298	0.851	0.160	11	1442607	splice donor variant	G/A	snv			11
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs121908681	PLA2G6	0.851	0.160	22	38120867	missense variant	T/C;G	snv	2.4E-05		7
rs1554943158	DEAF1	0.882	0.040	11	681045	inframe deletion	CTT/-	delins			6
rs1555889162	KCNB1 ; LOC105372649	0.882	0.040	20	49374931	missense variant	G/A;C	snv			6
rs1057518821	SLC2A1	1.000		1	42930671	frameshift variant	-/C	delins			5
rs1057518796	SYNGAP1	1.000		6	33443751	frameshift variant	C/-	delins			3