DisGeNET - a database of gene-disease associations

List of associated variants

Medullary carcinoma of thyroid, C0238462

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
rs104886028	KRAS	1.000	0.080	12	25227308	missense variant	C/T	snv			1
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs1057519855	HRAS ; LRRC56	0.776	0.120	11	533873	missense variant	CT/AC;TC	mnv			11
rs11214077	SDHD ; TIMM8B	0.752	0.120	11	112087953	missense variant	A/G	snv	6.6E-03	6.7E-03	12
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs1188536960	SORD	0.882	0.120	15	45043305	missense variant	A/G	snv			5
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			37
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			24
rs121913306	RET	0.851	0.120	10	43120119	missense variant	AGC/TTT	mnv			4
rs121913308	RET	0.827	0.120	10	43114492	missense variant	A/C;G;T	snv			6
rs121913309	RET	1.000	0.080	10	43120164	inframe deletion	TGTTTATGAAGA/-	delins			1
rs121913312	RET	1.000	0.080	10	43114494	inframe deletion	GAGCTG/-	del			1
rs121913313	RET	1.000	0.080	10	43113626	inframe deletion	TTCCCTGAGGAGGAGAAGTGCTTCTGC/-	delins			1
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs143795581	RET	0.851	0.120	10	43114596	missense variant	A/C;G	snv	8.0E-06		5
rs145633958	RET	1.000	0.080	10	43100551	missense variant	C/A;T	snv	2.7E-03; 4.0E-06		1
rs146646971	RET	0.807	0.120	10	43114598	missense variant	G/C;T	snv	2.4E-05		7
rs146838520	RET	0.851	0.120	10	43120129	missense variant	C/T	snv	4.0E-06	2.8E-05	4
rs148935214	RET	0.882	0.240	10	43114546	missense variant	C/T	snv	3.2E-04	3.8E-04	3
rs1555166368	MEN1	0.851	0.120	11	64809738	frameshift variant	GA/-	del			6
rs1799939	RET	0.658	0.280	10	43114671	missense variant	G/A;C;T	snv	0.21		27
rs1800863	RET	0.851	0.160	10	43120185	synonymous variant	C/A;G	snv	1.6E-05; 0.21		4
rs183334241	TSHZ1	0.925	0.080	18	75288186	missense variant	G/A;C	snv	1.6E-04		2