Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs369488804
rs369488804 		1.000 17 28357690 missense variant C/A;G;T snv 4.0E-06; 8.9E-05
CUI: C4225190
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		0.800 1.000 1 2016 2016
dbSNP: rs782531869
rs782531869 		1.000 17 28357762 missense variant G/C snv 4.0E-05 5.6E-05
CUI: C4225190
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		0.800 1.000 1 2016 2016
dbSNP: rs869025586
rs869025586 		1.000 17 28357710 missense variant G/C snv
CUI: C4225190
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		0.800 0
dbSNP: rs13469
rs13469 		17 28349109 synonymous variant C/G;T snv 0.53
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13469
rs13469 		17 28349109 synonymous variant C/G;T snv 0.53
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2019 2019
dbSNP: rs2073867
rs2073867 		17 28351934 intron variant G/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3032928
rs3032928 		17 28352538 intron variant T/-;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTTTTTT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11448856
rs11448856 		1.000 0.040 17 28357365 frameshift variant C/-;CC delins 6.2E-06; 1.00
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs67934205
rs67934205 		1.000 0.040 17 28357365 frameshift variant C/-;CC delins
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs868988300
rs868988300 		1.000 0.040 17 28357364 missense variant G/C snv
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		Nervous System Diseases 0.010 1.000 1 2006 2006