DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Bell-shaped thorax ×

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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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			35
rs1554699491	AGTPBP1	0.763	0.280	9	85596450	splice acceptor variant	C/A	snv			23
rs780631499	AGTPBP1	0.763	0.280	9	85588465	frameshift variant	G/-	del	4.0E-06	7.0E-06	23
rs797045412	BICD2	0.776	0.280	9	92718565	missense variant	G/A;T	snv			17
rs137853027	DYNC2H1	0.827	0.120	11	103220720	missense variant	A/G	snv	2.4E-04	2.6E-04	15
rs1260978141	DYNC2H1	1.000	0.120	11	103125293	stop gained	C/T	snv	4.5E-06		8