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: rs3796727
rs3796727
CPZ ; GPR78
0.882 0.080 4 8611299 intron variant G/A snv 0.26 0.32
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.710 1.000 2 2017 2018
dbSNP: rs3756173
rs3756173
CPZ ; GPR78
4 8596971 intron variant C/T snv 0.33
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2019 2019
dbSNP: rs2241069
rs2241069
CPZ ; GPR78
4 8601071 5 prime UTR variant G/C snv 0.55
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs375633720
rs375633720
CPZ ; GPR78
4 8601494 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs775707132
rs775707132
CPZ ; GPR78
4 8612120 missense variant G/A;T snv 1.6E-05; 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs3796725
rs3796725
CPZ ; GPR78
0.882 0.080 4 8616210 intron variant C/T snv 0.23
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs3796725
rs3796725
CPZ ; GPR78
0.882 0.080 4 8616210 intron variant C/T snv 0.23
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs3796725
rs3796725
CPZ ; GPR78
0.882 0.080 4 8616210 intron variant C/T snv 0.23
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs3796727
rs3796727
CPZ ; GPR78
0.882 0.080 4 8611299 intron variant G/A snv 0.26 0.32
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs3796727
rs3796727
CPZ ; GPR78
0.882 0.080 4 8611299 intron variant G/A snv 0.26 0.32
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2018 2018