DisGeNET - a database of gene-disease associations

List of associated variants

MOYAMOYA DISEASE 2, C1846689

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
rs112735431	RNF213 ; RNF213-AS1	0.683	0.320	17	80385145	missense variant	G/A;C	snv	2.6E-04; 8.0E-06		24
rs148731719	RNF213 ; RNF213-AS1	0.882	0.080	17	80376310	missense variant	G/A	snv	1.0E-02	7.9E-03	3
rs1568149971	RNF213-AS1 ; RNF213	1.000	0.080	17	80372536	missense variant	A/G	snv			1
rs797045187	RNF213-AS1 ; RNF213	1.000	0.080	17	80369784	inframe deletion	AAA/-	delins			1
rs1555675538	RNF213 ; RNF213-AS1	1.000	0.080	17	80368028	missense variant	C/A	snv			1
rs397514563	RNF213 ; RNF213-AS1	1.000	0.080	17	80368025	missense variant	G/A	snv	8.0E-06	7.0E-06	1