rs773779627, EDN3

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Heterochromia iridis
CUI: C0423318
Disease: Heterochromia iridis
10 1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06 0.700 0
Megacolon
CUI: C0025160
Disease: Megacolon
9 1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06 0.700 0
Spotty hypopigmentation
CUI: C3806178
Disease: Spotty hypopigmentation
1 1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06 0.700 0
Waardenburg Syndrome, Type 4b
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
9 1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06 0.700 0
White forelock
CUI: C0344312
Disease: White forelock
1 1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06 0.700 0