DisGeNET - a database of gene-disease associations

List of associated variants

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder), C1970470

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
rs121917834	SFTPC	0.790	0.080	8	22163096	missense variant	T/A;C	snv	3.6E-05		10
rs121917836	SFTPC	0.882	0.040	8	22162727	missense variant	G/A	snv			4
rs121917835	BMP1 ; SFTPC	0.925	0.040	8	22164010	missense variant	T/A	snv			2
rs34957318	SFTPC ; BMP1	0.925	0.080	8	22163947	missense variant	G/A	snv	1.1E-03	4.3E-03	2
rs121918560	BMP1 ; SFTPC	1.000	0.040	8	22164028	missense variant	T/C	snv			1
rs121918559	SFTPC ; BMP1	1.000	0.040	8	22163458	missense variant	C/A	snv			1