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: rs587777116
rs587777116
DPM1 ; ADNP-AS1
1.000 0.080 20 50942070 missense variant C/A snv 1.6E-05
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		0.800 1.000 5 2000 2016
dbSNP: rs121908583
rs121908583
DPM1
1.000 0.080 20 50948650 stop gained G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		0.800 1.000 4 2000 2013
dbSNP: rs587777114
rs587777114
DPM1 ; ADNP-AS1
1.000 0.080 20 50935173 missense variant A/G snv
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		0.800 1.000 4 2000 2013
dbSNP: rs1272097668
rs1272097668
DPM1
1.000 0.080 20 50945876 frameshift variant ATGTAGTTTCCTG/- delins 8.0E-06 1.4E-05
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		0.700 0
dbSNP: rs1568757730
rs1568757730
DPM1 ; ADNP-AS1
1.000 0.080 20 50936198 frameshift variant G/- delins
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		0.700 0
dbSNP: rs587777115
rs587777115
DPM1
1.000 0.080 20 50945767 splice region variant A/T snv
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		0.700 0
dbSNP: rs753780084
rs753780084
DPM1 ; ADNP-AS1
1.000 0.080 20 50942116 stop gained C/A;T snv 4.0E-06
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		0.700 0
dbSNP: rs587777116
rs587777116
DPM1 ; ADNP-AS1
1.000 0.080 20 50942070 missense variant C/A snv 1.6E-05
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.010 1.000 1 2013 2013