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: rs122461163
rs122461163
HSD17B10 ; RIBC1
X 53431450 missense variant T/C snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 1.000 12 2003 2017
dbSNP: rs587777651
rs587777651
HSD17B10
X 53432347 missense variant T/C snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 1.000 12 2003 2017
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
X 53431445 missense variant C/G snv
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.800 1.000 12 2003 2017
dbSNP: rs111033617
rs111033617
IL2RG ; CXorf65
X 71108599 missense variant C/T snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.800 1.000 11 1993 1997
dbSNP: rs111033620
rs111033620
IL2RG
X 71110617 missense variant C/T snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.800 1.000 11 1993 1997
dbSNP: rs111033621
rs111033621
IL2RG
X 71110292 missense variant A/T snv
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.800 1.000 11 1993 1997
dbSNP: rs121913656
rs121913656
MYH9
22 36295526 missense variant G/A snv
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		0.800 1.000 11 2000 2006
dbSNP: rs200901330
rs200901330
MYH9
22 36295650 missense variant A/G snv 3.2E-04 4.3E-04
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		0.700 1.000 11 2000 2006
dbSNP: rs554332083
rs554332083
MYH9
22 36300961 missense variant T/G snv 1.6E-04 2.8E-05
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		0.700 1.000 11 2000 2006
dbSNP: rs762773112
rs762773112
MYH9
22 36285158 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		0.700 1.000 11 2000 2006
dbSNP: rs76368635
rs76368635
MYH9
22 36292132 missense variant G/A snv 1.0E-03 1.2E-03
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		0.700 1.000 11 2000 2006
dbSNP: rs121964904
rs121964904
AGA
4 177438764 missense variant C/G snv 7.8E-04 5.4E-04
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.840 1.000 6 1991 2016
dbSNP: rs121964905
rs121964905
AGA
4 177433250 missense variant C/T snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.800 1.000 6 1991 2001
dbSNP: rs121964906
rs121964906
AGA
4 177433238 missense variant A/G snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.800 1.000 6 1991 2001
dbSNP: rs121964907
rs121964907
AGA
4 177440375 missense variant C/T snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.700 1.000 6 1991 2001
dbSNP: rs121964908
rs121964908
AGA
4 177439668 missense variant G/A snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.800 1.000 6 1991 2008
dbSNP: rs121964909
rs121964909
AGA
4 177440340 missense variant A/G snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.800 1.000 6 1991 2001
dbSNP: rs192195150
rs192195150
AGA
4 177438770 missense variant C/T snv 8.1E-04 5.5E-04
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.700 1.000 6 1991 2001
dbSNP: rs386833432
rs386833432
AGA
4 177434434 missense variant C/G snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.800 1.000 6 1991 2001
dbSNP: rs386833433
rs386833433
AGA
4 177434433 missense variant C/T snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.800 1.000 6 1991 2001
dbSNP: rs386833434
rs386833434
AGA
4 177434418 missense variant G/A snv 8.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.800 1.000 6 1991 2001
dbSNP: rs104893943
rs104893943
ARG1 ; MED23
6 131581326 missense variant G/T snv 7.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.800 1.000 4 1992 2013
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
6 131583392 missense variant G/A;C snv 2.0E-05; 8.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.800 1.000 4 1992 2016
dbSNP: rs141970914
rs141970914
HAX1
1 154274959 missense variant G/A snv 3.3E-04 1.5E-04
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.700 1.000 4 2007 2010
dbSNP: rs28941474
rs28941474
ARG1
6 131573314 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.810 1.000 4 1992 2018