SLC52A2, solute carrier family 52 member 2, 79581

N. diseases: 261; N. variants: 21
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564653965
rs1564653965 		1.000 8 144359377 splice donor variant AAGAGCTTCCAGAGGGTGAGTGGGAGGGAGGTGCAGGTGTGCCCAAGACTCCTGGGCTGCGGTCAGTGGGATCTGGGTGGAGCTACCTGTGGTGGTCA/- delins
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 0