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.
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Exanthema
CUI: C0015230
Disease: Exanthema
14 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Heart murmur
CUI: C0018808
Disease: Heart murmur
10 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
Slender finger
CUI: C1857482
Disease: Slender finger
5 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Round ear
CUI: C4021959
Disease: Round ear
4 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
Hyperextensible thumb
CUI: C4025148
Disease: Hyperextensible thumb
2 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0