rs113871094, FBN1

N. diseases: 34
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.
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Slender finger
CUI: C1857482
Disease: Slender finger
5 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Smooth philtrum
CUI: C1142533
Disease: Smooth philtrum
10 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Stiff Skin Syndrome
CUI: C1861456
Disease: Stiff Skin Syndrome
26 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Weill-Marchesani Syndrome, Autosomal Dominant
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
23 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0