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: rs146093755
rs146093755
GALNS
1.000 0.120 16 88840999 missense variant C/T snv 8.0E-06 3.5E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.800 1.000 4 1992 2014
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 2 1992 2014
dbSNP: rs1028668536
rs1028668536
GALNS
0.925 0.120 16 88841948 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.800 1.000 0 1992 2014
dbSNP: rs267606838
rs267606838
GALNS
1.000 0.120 16 88826822 missense variant C/T snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.800 1.000 0 1992 2014
dbSNP: rs749578474
rs749578474
GALNS ; LOC107987238
1.000 0.120 16 88824790 missense variant T/G snv 8.0E-06 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.800 1.000 0 1992 2014
dbSNP: rs770053354
rs770053354
GALNS
1.000 0.120 16 88835251 missense variant G/A snv 1.7E-05 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.800 1.000 0 1992 2014
dbSNP: rs118204438
rs118204438
GALNS
0.882 0.120 16 88841077 missense variant T/A snv 4.0E-05 7.7E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.710 1.000 7 1995 2014
dbSNP: rs118204437
rs118204437
GALNS ; LOC107987238
0.882 0.120 16 88824853 missense variant G/A snv 9.2E-05 4.9E-05
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		0.710 1.000 3 1996 2013
dbSNP: rs1028668536
rs1028668536
GALNS
0.925 0.120 16 88841948 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 1995 2017
dbSNP: rs149239881
rs149239881
GALNS
0.925 0.120 16 88835227 missense variant G/A snv 3.7E-05 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 1995 2017
dbSNP: rs1555523411
rs1555523411
GALNS
1.000 16 88842828 missense variant A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 14 1995 2017
dbSNP: rs1555523411
rs1555523411
GALNS
1.000 16 88842828 missense variant A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 1995 2017
dbSNP: rs118204437
rs118204437
GALNS ; LOC107987238
0.882 0.120 16 88824853 missense variant G/A snv 9.2E-05 4.9E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 8 1995 2015
dbSNP: rs118204443
rs118204443
GALNS
0.882 0.120 16 88832099 missense variant C/A snv 4.4E-05 8.4E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 6 1997 2014
dbSNP: rs118204438
rs118204438
GALNS
0.882 0.120 16 88841077 missense variant T/A snv 4.0E-05 7.7E-05
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		0.700 1.000 4 1998 2014
dbSNP: rs1301146300
rs1301146300
GALNS
1.000 0.120 16 88837721 missense variant A/C snv 4.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 4 1998 2012
dbSNP: rs144067930
rs144067930
GALNS
0.925 0.120 16 88835261 missense variant A/C snv 2.2E-04 1.7E-04
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		0.700 1.000 4 1998 2014
dbSNP: rs144067930
rs144067930
GALNS
0.925 0.120 16 88835261 missense variant A/C snv 2.2E-04 1.7E-04
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 4 1998 2014
dbSNP: rs761385192
rs761385192
GALNS
0.925 0.120 16 88835743 missense variant C/T snv 2.8E-05 3.5E-05
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		0.700 1.000 4 1997 2014
dbSNP: rs761850746
rs761850746
GALNS
1.000 0.120 16 88835212 splice donor variant C/G;T snv 5.1E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 4 1997 2014
dbSNP: rs118204443
rs118204443
GALNS
0.882 0.120 16 88832099 missense variant C/A snv 4.4E-05 8.4E-05
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		0.700 1.000 3 1997 2014
dbSNP: rs1308500116
rs1308500116
GALNS
1.000 0.120 16 88837722 missense variant A/G snv 1.2E-05
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 3 1997 2014
dbSNP: rs199638097
rs199638097
GALNS
1.000 0.120 16 88842811 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 3 1997 2018
dbSNP: rs781439830
rs781439830
GALNS
1.000 0.120 16 88837737 missense variant G/T snv 8.0E-06 7.0E-06
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 3 2012 2014
dbSNP: rs794727625
rs794727625
GALNS
1.000 0.120 16 88840993 missense variant A/T snv
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 1.000 3 1997 2014