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: rs12481546
rs12481546
AAR2
20 36261760 intron variant G/A snv 6.9E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs17436024
rs17436024
AAR2
20 36255171 intron variant C/T snv 2.7E-02
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs17436024
rs17436024
AAR2
20 36255171 intron variant C/T snv 2.7E-02
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2425192
rs2425192
AAR2
20 36242663 intron variant A/G;T snv
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
dbSNP: rs2425204
rs2425204
AAR2
20 36268740 intron variant A/G snv 0.15
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2425204
rs2425204
AAR2
20 36268740 intron variant A/G snv 0.15
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		0.700 0
dbSNP: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0332573
Disease: Macule
Macule 		0.700 0
dbSNP: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		0.700 0
dbSNP: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation 		0.700 0
dbSNP: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0