DisGeNET - a database of gene-disease associations

List of associated variants

Rett Syndrome, C0035372

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	Num. diseases
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv	46
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins	43
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv	30
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins	25
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv	17
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv	17
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv	9
rs61748421	MECP2	0.807	0.200	X	154031326	stop gained	G/A;T	snv	9
rs61752992	MECP2	0.807	0.120	X	154030621	splice acceptor variant	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/-	delins	9
rs61749715	MECP2	0.851	0.120	X	154031154	missense variant	G/A;C	snv	8
rs61750241	MECP2	0.807	0.080	X	154031022	frameshift variant	C/-	delins	7
rs1557134621	MECP2	0.827	0.120	X	154030106	splice acceptor variant	CCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG/-	delins	5
rs267608463	MECP2	0.925	0.120	X	154032206	splice donor variant	C/A;T	snv	5
rs61748420	MECP2	0.851	0.200	X	154031329	missense variant	G/A;T	snv	5
rs61751444	MECP2	0.882	0.080	X	154030903	missense variant	G/A	snv	5
rs1557135315	MECP2	0.851	0.080	X	154030627	splice acceptor variant	GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/-	delins	4
rs1557136818	MECP2	0.925	0.120	X	154031259	missense variant	C/T	snv	4
rs179363901	MECP2	0.882	0.120	X	154097661	missense variant	G/A	snv	4
rs267608597	MECP2	0.882	0.080	X	154030665	stop gained	GG/TA	mnv	4
rs61748396	MECP2	0.882	0.080	X	154031405	stop gained	G/C;T	snv	4
rs61751364	MECP2	0.882	0.120	X	154030944	frameshift variant	CGGAT/-	delins	4
rs62641235	CDKL5	0.851	0.200	X	18575423	missense variant	T/A;C	snv	4
rs267606827	FOXG1	0.925	0.120	14	28768203	stop gained	G/A	snv	3
rs267608426	MECP2	0.882	0.080	X	154032473	frameshift variant	TCTT/-	delins	3
rs61748404	MECP2	0.882	0.120	X	154031373	missense variant	G/C;T	snv	3