Source: CLINVAR

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: rs112029032
rs112029032
HGSNAT
0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03
CUI: C0086649
Disease: MPS III C
MPS III C 		0.800 0
dbSNP: rs112029032
rs112029032
HGSNAT
0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.800 0
dbSNP: rs112029032
rs112029032
HGSNAT
0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 0 2015 2015
dbSNP: rs483352908
rs483352908
HGSNAT
0.925 0.120 8 43147064 splice donor variant G/A snv 4.7E-05 1.4E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 8 2006 2015
dbSNP: rs483352908
rs483352908
HGSNAT
0.925 0.120 8 43147064 splice donor variant G/A snv 4.7E-05 1.4E-05
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 7 2006 2015
dbSNP: rs121908285
rs121908285
HGSNAT
0.925 0.120 8 43182162 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 5 2006 2011
dbSNP: rs121908285
rs121908285
HGSNAT
0.925 0.120 8 43182162 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 5 2006 2011
dbSNP: rs753355844
rs753355844
HGSNAT
0.882 0.120 8 43193790 missense variant G/A snv 1.6E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 5 2006 2010
dbSNP: rs753355844
rs753355844
HGSNAT
0.882 0.120 8 43193790 missense variant G/A snv 1.6E-05
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 5 2006 2010
dbSNP: rs756310864
rs756310864
HGSNAT
0.925 0.120 8 43197848 missense variant C/T snv 1.3E-04 3.5E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 4 2006 2010
dbSNP: rs756310864
rs756310864
HGSNAT
0.925 0.120 8 43197848 missense variant C/T snv 1.3E-04 3.5E-05
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 4 2006 2010
dbSNP: rs398124544
rs398124544
HGSNAT
1.000 0.120 8 43191596 splice donor variant G/A snv 4.0E-06 2.1E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 3 2006 2014
dbSNP: rs483352896
rs483352896
HGSNAT
0.925 0.120 8 43158921 splice acceptor variant A/G snv 2.5E-05 2.1E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 3 2011 2015
dbSNP: rs747240928
rs747240928
HGSNAT
1.000 0.120 8 43196999 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 3 2006 2015
dbSNP: rs766835582
rs766835582
HGSNAT
1.000 0.120 8 43182163 missense variant G/A snv 3.6E-05 3.5E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 3 2006 2009
dbSNP: rs775078211
rs775078211
HGSNAT
0.882 0.120 8 43191495 stop gained C/G;T snv 4.0E-06; 1.6E-05
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 3 2006 2008
dbSNP: rs1085307880
rs1085307880
HGSNAT
0.925 0.120 8 43170690 frameshift variant A/- del
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 2 2007 2009
dbSNP: rs1085307880
rs1085307880
HGSNAT
0.925 0.120 8 43170690 frameshift variant A/- del
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 2 2007 2009
dbSNP: rs121908282
rs121908282
HGSNAT
0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 2 2009 2010
dbSNP: rs121908282
rs121908282
HGSNAT
0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 2 2009 2010
dbSNP: rs1554537841
rs1554537841
HGSNAT
1.000 0.120 8 43197900 stop gained C/G snv
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 2 2009 2015
dbSNP: rs1563366896
rs1563366896
HGSNAT
0.882 0.120 8 43169216 stop gained C/T snv
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 2 2008 2015
dbSNP: rs193066451
rs193066451
HGSNAT
0.882 0.120 8 43159045 splice donor variant G/A snv 4.0E-05 1.3E-04
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 2 2006 2006
dbSNP: rs483352896
rs483352896
HGSNAT
0.925 0.120 8 43158921 splice acceptor variant A/G snv 2.5E-05 2.1E-05
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 2 2008 2011
dbSNP: rs775078211
rs775078211
HGSNAT
0.882 0.120 8 43191495 stop gained C/G;T snv 4.0E-06; 1.6E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 1.000 2 2006 2013