Source: UNIPROT

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: rs1057519635
rs1057519635
PRKD1
1.000 14 29626508 missense variant C/T snv
CUI: C4479250
Disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 		0.800 0
dbSNP: rs1057519636
rs1057519636
PRKD1
1.000 14 29638705 missense variant A/C snv
CUI: C4479250
Disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 		0.800 0
dbSNP: rs1383618278
rs1383618278
PRKD1
1.000 0.080 14 29666158 missense variant G/A snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0