DisGeNET - a database of gene-disease associations

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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
rs1560418178	KIT			4	54727909	missense variant	G/A	snv			1
rs780708976	KIT			4	54727456	missense variant	T/A;C	snv	1.6E-05		1
rs17084733	KIT	1.000	0.080	4	54738774	3 prime UTR variant	G/A	snv		0.10	2
rs1060502521	KIT			4	54733162	frameshift variant	G/-	del			1
rs1553887262	KIT			4	54695552	frameshift variant	-/T	ins			1
rs1553887960	KIT			4	54699760	frameshift variant	TCAG/-	delins			1
rs1560395607	KIT			4	54698334	frameshift variant	A/-	delins			1
rs1560417438	KIT			4	54727436	frameshift variant	GTGGAAGGTTGTTGAGGAG/-	del			1
rs1560420761	KIT			4	54731338	frameshift variant	AC/-	del			1
rs121913234	KIT			4	54727414	splice region variant	AAACCCATGTATGAAGTACAGTGGAAG/-	delins			1
rs121913685	KIT	0.882	0.080	4	54727443	inframe deletion	TTGTTG/-;TTG	delins			4
rs1060502543	KIT			4	54727501	inframe deletion	GAT/-	delins			1
rs1560417385	KIT			4	54727420	inframe deletion	CCATGTATGAAGTACAGTGGA/-	del			1
rs1560417535	KIT			4	54727444	inframe deletion	TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA/-	del			1
rs587776804	KIT			4	54727418	inframe deletion	CCATGTATGAAGTAC/-	delins			1
rs869025568	KIT			4	54727435	inframe deletion	TGGAAG/-	delins			1
rs1560417396	KIT			4	54727421	protein altering variant	CATGTATG/AA	delins			1
rs1560417427	KIT			4	54727433	protein altering variant	ACAGTGGA/CC	delins			1
rs1560417642	KIT			4	54727482	protein altering variant	-/ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA	delins			1
rs1560417666	KIT			4	54727488	protein altering variant	-/CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC	delins			1
rs1560417673	KIT			4	54727489	inframe insertion	-/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT	delins			1