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: rs757167361
rs757167361
DPH1
0.925 17 2030171 missense variant T/A;C;G snv
CUI: C4310801
Disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR 		0.800 1.000 2 2015 2015
dbSNP: rs730882250
rs730882250
DPH1
0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C4310801
Disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR 		0.800 0
dbSNP: rs35394823
rs35394823
DPH1 ; OVCA2
1.000 0.120 17 2040586 missense variant C/G snv 8.1E-02 6.8E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs778705666
rs778705666
DPH1
1.000 0.120 17 2030174 missense variant C/T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0