DisGeNET - a database of gene-disease associations

List of associated variants

MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES, C3553831

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
rs1256028809	RTTN	1.000		18	70030114	splice region variant	A/T	snv	4.0E-06		5
rs775277800	RTTN	0.851	0.120	18	70166989	missense variant	C/G;T	snv	4.0E-06		4
rs318240757	RTTN	0.925		18	70135273	missense variant	T/A	snv			2
rs780270096	RTTN	0.925	0.120	18	70028797	missense variant	T/C	snv	4.0E-06	7.0E-06	2
rs864321620	RTTN	0.925	0.120	18	70135176	splice region variant	T/C	snv			2
rs864321621	RTTN	0.925	0.120	18	70127695	missense variant	T/G	snv			2
rs201884120	RTTN ; LOC105372180	1.000		18	70205267	missense variant	C/T	snv	2.4E-05	9.8E-05	1