DisGeNET - a database of gene-disease associations

List of shared variants

Generalized hypotonia, C1858120

Disease: Feeding difficulties in infancy

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
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		45
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins			18
rs1562203136	PHIP	0.882	0.120	6	79042902	frameshift variant	-/T	ins			9