DisGeNET - a database of gene-disease associations

List of associated variants

Solute carrier family 35 member A2 congenital disorder of glycosylation, C3806688

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
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs1057518719	SLC35A2	1.000	0.160	X	48905289	frameshift variant	ACGA/-	del			1
rs1557042824	SLC35A2	1.000	0.160	X	48905134	splice acceptor variant	CGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAACCA/-	delins			1
rs1557043131	SLC35A2	1.000	0.160	X	48906470	frameshift variant	T/-	del			1
rs1557044030	SLC35A2	1.000	0.160	X	48911498	splice donor variant	GATCCCGACCTCCGCCTCCCATGCGACTGCTCGGGCAGACTGTCTCACCCGCACTGGCGGTCCCCGGCTCCAATGCACCCGCGGAAACCGCCCCTGGCCCGGGCGCCGCGGTGGAACCACCAGCC/T	delins			1
rs1569511572	SLC35A2	1.000	0.160	X	48909855	missense variant	T/C	snv			1
rs587776961	SLC35A2	1.000	0.160	X	48904918	missense variant	C/T	snv			1
rs587776962	SLC35A2	1.000	0.160	X	48911634	start lost	C/T	snv			1
rs587777434	SLC35A2	1.000	0.160	X	48905475	frameshift variant	AT/-	delins			1
rs587777435	SLC35A2	1.000	0.160	X	48904937	frameshift variant	A/-	delins			1
rs587777436	SLC35A2	1.000	0.160	X	48905271	missense variant	G/A	snv			1
rs869312860	SLC35A2	1.000	0.160	X	48905109	missense variant	T/C	snv			1