Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs755832705
rs755832705
GALNS ; TRAPPC2L ; LOC107983950
1.000 0.120 16 88856771 missense variant A/C snv 2.6E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.800 1.000 13 1992 2014
dbSNP: rs866745731
rs866745731
GALNS ; TRAPPC2L ; LOC107983950
1.000 0.120 16 88856835 missense variant G/T snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 12 1992 2014
dbSNP: rs794729202
rs794729202
GALNS ; TRAPPC2L ; LOC107983950
1.000 0.120 16 88856831 missense variant A/C;T snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 2 1997 2005
dbSNP: rs771531650
rs771531650
GALNS ; TRAPPC2L ; LOC107983950
1.000 0.120 16 88856877 start lost T/A;C;G snv 9.2E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.010 1.000 1 2016 2016
dbSNP: rs911452920
rs911452920
GALNS ; TRAPPC2L ; LOC107983950
1.000 0.120 16 88856844 stop gained G/A snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.010 1.000 1 2017 2017
dbSNP: rs935071754
rs935071754
GALNS ; TRAPPC2L ; LOC107983950
1.000 0.120 16 88856873 missense variant G/A;C snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.010 1.000 1 2016 2016