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: 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: 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: 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: rs386833421
rs386833421
AGA
4 177439671 missense variant C/T snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.800 1.000 0 1997 2008
dbSNP: rs386833427
rs386833427
AGA
4 177438848 missense variant A/G snv 7.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.800 0
dbSNP: rs121964907
rs121964907
AGA
4 177440375 missense variant C/T snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.700 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: rs74626221
rs74626221
AGA ; LOC285500
4 177442342 missense variant C/A;G snv 1.4E-02; 2.0E-05
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		0.700 0