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: rs1483186
rs1483186
PRKCD
0.925 0.040 3 53165064 intron variant C/G;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs1483186
rs1483186
PRKCD
0.925 0.040 3 53165064 intron variant C/G;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
dbSNP: rs151079563
rs151079563
PRKCD
3 53160305 intron variant T/C snv 9.4E-04
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 1.000 1 2018 2018
dbSNP: rs1398084548
rs1398084548
PRKCD
1.000 0.040 3 53179612 missense variant A/G snv 1.4E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2016 2016
dbSNP: rs2306574
rs2306574
PRKCD
1.000 0.040 3 53188745 synonymous variant C/T snv 0.75 0.75
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017