Source: UNIPROT

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: rs61751507
rs61751507
CPN1
1.000 0.080 10 100069757 missense variant C/T snv 4.2E-02 3.4E-02
CUI: C0398782
Disease: Carboxypeptidase N Deficiency
Carboxypeptidase N Deficiency 		0.700 1.000 1 2003 2003
dbSNP: rs558683362
rs558683362
IDUA
1.000 0.120 4 1000895 missense variant G/A;C snv 4.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 14 1992 2013
dbSNP: rs141371306
rs141371306
PCCA
1.000 0.080 13 100111886 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 4 1999 2014
dbSNP: rs374993554
rs374993554
TAF6
0.925 7 100113899 missense variant A/G;T snv 3.2E-05
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.800 1.000 2 2015 2015
dbSNP: rs727503778
rs727503778
TAF6
0.925 0.080 7 100114074 missense variant G/A snv
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.800 0
dbSNP: rs876661307
rs876661307
SASS6
1.000 1 100123231 missense variant A/G snv
CUI: C4225338
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs367737727
rs367737727
EVL
1.000 0.080 14 100128600 missense variant C/T snv 1.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs992336192
rs992336192
IDUA
1.000 0.120 4 1001506 missense variant G/A;C snv
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 0
dbSNP: rs754154200
rs754154200
IDUA
1.000 0.120 4 1001518 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 14 1992 2013
dbSNP: rs202247814
rs202247814
PCCA
1.000 0.080 13 100155090 missense variant G/A snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.820 1.000 4 1999 2014
dbSNP: rs1430681871
rs1430681871
IDUA
1.000 0.120 4 1001712 missense variant G/A snv 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.800 1.000 14 1992 2013
dbSNP: rs1230234600
rs1230234600
IDUA
1.000 0.120 4 1001745 missense variant G/A;C snv
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.700 1.000 8 1993 2015
dbSNP: rs1333017606
rs1333017606
STAG3 ; GPC2
1.000 0.080 7 100175622 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs148789453
rs148789453
IDUA
0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.720 1.000 0 2014 2019
dbSNP: rs876661322
rs876661322
ERLIN1
1.000 10 100183802 missense variant C/A snv
CUI: C4284588
Disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs863225072
rs863225072
SLC2A9
1.000 0.160 4 10019000 missense variant A/C snv 6.5E-06 2.8E-05
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.800 1.000 3 2008 2012
dbSNP: rs369090960
rs369090960
IDUA
1.000 0.120 4 1001982 missense variant G/A;C snv 2.1E-05; 5.2E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 1.000 8 1993 2011
dbSNP: rs12021720
rs12021720
DBT
0.925 0.160 1 100206504 missense variant T/A;C snv 0.92
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 1.000 3 1991 2014
dbSNP: rs202247815
rs202247815
PCCA
1.000 0.080 13 100209354 missense variant T/C snv 4.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 4 1999 2004
dbSNP: rs121964999
rs121964999
DBT
0.882 0.120 1 100214929 missense variant A/C snv 1.1E-04 1.0E-04
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 1.000 3 1991 2014
dbSNP: rs199801029
rs199801029
IDUA
0.925 0.120 4 1002275 missense variant G/C snv 6.6E-05 7.7E-05
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.800 1.000 14 1992 2016
dbSNP: rs121965001
rs121965001
DBT
1.000 0.120 1 100230872 missense variant G/C snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.700 1.000 2 1991 1998
dbSNP: rs121965033
rs121965033
IDUA
0.925 0.120 4 1002333 missense variant T/C;G snv 4.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.800 1.000 8 1993 2011
dbSNP: rs746766617
rs746766617
IDUA
0.882 0.120 4 1002340 missense variant C/G snv 4.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.700 0
dbSNP: rs368454909
rs368454909
IDUA
1.000 0.120 4 1002341 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 14 1992 2013