DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: TMEM231 ×

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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
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs397514753	TMEM231	0.925	0.040	16	75542602	missense variant	C/T	snv	4.0E-06	4.9E-05	2
rs200799769	TMEM231	0.925		16	75542641	missense variant	C/T	snv	6.8E-05	3.5E-05	2
rs200063331	TMEM231	0.925		16	75556024	stop gained	G/T	snv	2.3E-04	2.8E-04	2
rs760426025	TMEM231	0.925		16	75542598	splice region variant	T/C	snv	6.8E-05	5.6E-05	2
rs753709447	TMEM231	1.000	0.160	16	75555881	missense variant	C/A	snv	2.3E-05	2.1E-05	1
rs397514609	TMEM231	1.000		16	75556198	stop gained	A/G;T	snv	1.0E-05; 1.0E-05		1
rs1415483600	TMEM231	1.000		16	75545825	splice donor variant	C/T	snv	3.0E-05		1
rs397514754	TMEM231	1.000		16	75540130	missense variant	T/G	snv			1