Source: ALL

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: rs387906333
rs387906333
AASS
1.000 0.120 7 122098496 stop gained CTTGTTTAC/- del
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.700 0
dbSNP: rs587777121
rs587777121
AASS
1.000 0.120 7 122077833 splice donor variant CTTAC/AA delins
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.700 0
dbSNP: rs587777122
rs587777122
AASS
1.000 0.120 7 122116653 missense variant T/C snv 1.2E-05
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.700 0
dbSNP: rs587777123
rs587777123
AASS
1.000 0.120 7 122115140 frameshift variant TG/- del 4.0E-06
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.700 0
dbSNP: rs587777124
rs587777124
AASS
1.000 0.120 7 122091794 stop gained G/C snv
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.700 0
dbSNP: rs587777125
rs587777125
AASS
1.000 0.120 7 122133533 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.700 0
dbSNP: rs587777126
rs587777126
AASS
1.000 0.120 7 122113140 missense variant A/C snv 4.0E-06
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.700 0