DisGeNET - a database of gene-disease associations

List of associated variants

PEHO syndrome, C1850055

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
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			19
rs672601368	KIF1A	0.827	0.160	2	240785062	missense variant	C/G;T	snv			10
rs797045164	KIF1A	0.851	0.120	2	240785063	missense variant	G/A	snv			8
rs879255649	CCDC88A	1.000	0.080	2	55334506	frameshift variant	A/-	delins			1
rs148890852	LOC105371749 ; ZNHIT3	1.000	0.080	17	36486940	missense variant	C/T	snv	4.2E-04	4.3E-04	1
rs770002937	LOC105371749 ; ZNHIT3	1.000	0.080	17	36486740	missense variant	G/A;T	snv	2.8E-05		1