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: rs281865026
rs281865026
GNPTAB
0.925 0.160 12 101770109 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		0.800 1.000 7 2005 2017
dbSNP: rs34159654
rs34159654
GNPTAB
0.882 0.160 12 101830666 missense variant T/G snv 2.0E-05 7.0E-06
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		0.800 1.000 7 2005 2017
dbSNP: rs137852900
rs137852900
GNPTAB
0.925 0.160 12 101770185 missense variant A/G snv 7.0E-06
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		0.800 1.000 0 2005 2017
dbSNP: rs137852900
rs137852900
GNPTAB
0.925 0.160 12 101770185 missense variant A/G snv 7.0E-06
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.800 1.000 0 2005 2017
dbSNP: rs281864953
rs281864953
GNPTAB
0.925 0.160 12 101790019 missense variant C/A snv
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.800 1.000 0 2005 2017
dbSNP: rs281864970
rs281864970
GNPTAB
0.925 0.160 12 101770518 missense variant C/A;T snv 8.0E-06
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.800 1.000 0 2005 2017
dbSNP: rs281865006
rs281865006
GNPTAB
1.000 0.160 12 101761260 missense variant A/G snv 4.0E-06
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.800 1.000 0 2005 2017
dbSNP: rs281865010
rs281865010
GNPTAB
1.000 0.160 12 101760119 missense variant G/C snv
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.800 1.000 0 2005 2017
dbSNP: rs1429181351
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2005 2016
dbSNP: rs1429181351
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 9 2005 2016
dbSNP: rs1429181351
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2005 2016
dbSNP: rs34002892
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2005 2016
dbSNP: rs281865026
rs281865026
GNPTAB
0.925 0.160 12 101770109 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.700 1.000 7 2006 2016
dbSNP: rs34159654
rs34159654
GNPTAB
0.882 0.160 12 101830666 missense variant T/G snv 2.0E-05 7.0E-06
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.700 1.000 7 2006 2015
dbSNP: rs34002892
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		0.700 1.000 6 2006 2016
dbSNP: rs34002892
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.700 1.000 6 2006 2016
dbSNP: rs137852897
rs137852897
GNPTAB
0.925 0.160 12 101753409 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		0.700 1.000 5 2005 2017
dbSNP: rs137852897
rs137852897
GNPTAB
0.925 0.160 12 101753409 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.700 1.000 5 2005 2017
dbSNP: rs35333334
rs35333334
CHPT1 ; GNPTAB
0.925 0.160 12 101749181 stop gained G/A;T snv 4.0E-06
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		0.700 1.000 5 2005 2019
dbSNP: rs35333334
rs35333334
CHPT1 ; GNPTAB
0.925 0.160 12 101749181 stop gained G/A;T snv 4.0E-06
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.700 1.000 5 2005 2019
dbSNP: rs281865031
rs281865031
GNPTAB
0.925 0.160 12 101764201 splice donor variant C/T snv 2.8E-05 7.0E-06
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.700 1.000 4 2005 2019
dbSNP: rs281865031
rs281865031
GNPTAB
0.925 0.160 12 101764201 splice donor variant C/T snv 2.8E-05 7.0E-06
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		0.700 1.000 4 2005 2019
dbSNP: rs36007394
rs36007394
GNPTAB
0.925 0.160 12 101766122 frameshift variant G/- delins
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.700 1.000 4 2006 2010
dbSNP: rs397507448
rs397507448
GNPTAB
0.925 0.160 12 101768046 frameshift variant C/- delins 2.8E-05
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		0.700 1.000 4 2009 2017
dbSNP: rs397507448
rs397507448
GNPTAB
0.925 0.160 12 101768046 frameshift variant C/- delins 2.8E-05
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.700 1.000 4 2009 2017