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: rs148234606
rs148234606 		0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 1.000 8 2012 2016
dbSNP: rs398124641
rs398124641 		0.882 0.120 8 144360408 missense variant G/A;T snv 4.1E-05 6.3E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 1.000 8 2012 2016
dbSNP: rs397514657
rs397514657 		1.000 8 144359647 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 1.000 6 2012 2016
dbSNP: rs397514658
rs397514658 		1.000 8 144360932 missense variant G/A snv
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 1.000 6 2012 2016
dbSNP: rs397514538
rs397514538 		1.000 8 144359860 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 1.000 5 2012 2016
dbSNP: rs754320812
rs754320812 		0.925 8 144360427 missense variant T/C snv 2.4E-05 3.5E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 1.000 5 2012 2016
dbSNP: rs797045199
rs797045199 		1.000 8 144359385 missense variant G/C snv 7.0E-06
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 1.000 5 2012 2016
dbSNP: rs368924997
rs368924997 		1.000 8 144360935 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 1.000 1 2014 2014
dbSNP: rs398123067
rs398123067 		1.000 8 144360343 missense variant C/A;T snv
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 1.000 1 2014 2014
dbSNP: rs398123068
rs398123068 		1.000 8 144360406 missense variant A/G snv 8.1E-06 1.4E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 1.000 1 2014 2014
dbSNP: rs782305211
rs782305211 		1.000 8 144359622 splice acceptor variant G/A;C snv 8.0E-06; 8.0E-06
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 1.000 1 2014 2014
dbSNP: rs797045200
rs797045200 		1.000 8 144360192 stop gained C/T snv
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 1.000 1 2014 2014
dbSNP: rs1554853682
rs1554853682 		1.000 8 144359183 splice acceptor variant G/A snv
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 0
dbSNP: rs1554854044
rs1554854044 		1.000 8 144360038 frameshift variant C/-;CC delins
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 0
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
dbSNP: rs374071862
rs374071862 		1.000 8 144359875 missense variant C/T snv 1.2E-05 4.9E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 0
dbSNP: rs375088539
rs375088539 		1.000 8 144360300 stop gained C/T snv 1.2E-05 2.8E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 0
dbSNP: rs377740960
rs377740960 		0.882 0.120 8 144359913 missense variant C/A;G;T snv 8.0E-06; 8.0E-06
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 0
dbSNP: rs782345472
rs782345472 		1.000 8 144359997 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 0
dbSNP: rs782591841
rs782591841 		1.000 8 144359789 missense variant G/C snv 4.0E-05 2.1E-05
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 0
dbSNP: rs797045201
rs797045201 		1.000 8 144360357 missense variant C/G;T snv
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 0