DisGeNET - a database of gene-disease associations

List of associated variants

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder), C1849452

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
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	32
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		25
rs1805008	MC1R	0.732	0.240	16	89919736	missense variant	C/T	snv	4.7E-02	4.8E-02	16
rs16891982	SLC45A2	0.776	0.200	5	33951588	missense variant	C/A;G	snv	0.65		13
rs2228479	MC1R	0.763	0.280	16	89919532	missense variant	G/A;C	snv	7.8E-02; 4.0E-06		11
rs1805009	MC1R ; TUBB3	0.790	0.280	16	89920138	missense variant	G/A;C	snv	4.0E-06; 9.1E-03		9
rs1805005	MC1R	0.827	0.080	16	89919436	missense variant	G/T	snv	8.6E-02	8.0E-02	8
rs1232547491	RHCE	0.851	0.120	1	25385838	missense variant	A/G	snv			4
rs758656848	PTCH1	0.925	0.040	9	95485797	missense variant	T/C	snv			3
rs760253622	PTCH1	0.925	0.040	9	95506428	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		3
rs752077839	POMC	0.925		2	25161329	missense variant	G/A	snv	8.8E-06		2
rs1449409868	SSTR4	0.925	0.040	20	23035958	missense variant	C/A;T	snv	4.1E-06; 4.1E-06		2
rs1418568941	CD177	1.000		19	43355732	missense variant	T/C	snv			1