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: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0013528
Disease: Echolalia
Echolalia 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C1832451
Disease: Cranial hyperostosis
Cranial hyperostosis 		0.700 0
dbSNP: rs1085307112
rs1085307112
HGSNAT
1.000 0.120 8 43173728 missense variant A/C snv
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs121908283
rs121908283
HGSNAT
1.000 0.120 8 43178184 stop gained T/G snv
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs121908284
rs121908284
HGSNAT
1.000 0.120 8 43193824 missense variant T/A snv 7.0E-06
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs121908286
rs121908286
HGSNAT
1.000 0.120 8 43197682 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs1554526454
rs1554526454
HGSNAT
1.000 0.120 8 43140504 frameshift variant -/CG delins
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs1554531744
rs1554531744
HGSNAT
1.000 0.120 8 43170691 splice donor variant G/- delins
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs1554532283
rs1554532283
HGSNAT
1.000 0.120 8 43173744 splice donor variant G/A;T snv
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs1554537612
rs1554537612
HGSNAT
1.000 0.120 8 43197026 splice donor variant G/A;C snv
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs1554537613
rs1554537613
HGSNAT
1.000 0.120 8 43197027 splice donor variant T/G snv
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs1554537807
rs1554537807
HGSNAT
1.000 0.120 8 43197838 splice acceptor variant A/T snv
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs193066451
rs193066451
HGSNAT
0.882 0.120 8 43159045 splice donor variant G/A snv 4.0E-05 1.3E-04
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.700 0