rs137853147, ADAMTS2

N. diseases: 2
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.
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
6 1.000 0.160 5 179130005 stop gained C/T snv 0.700 1.000 2 1999 2004
Collagen Diseases
CUI: C0009326
Disease: Collagen Diseases
10 1.000 0.160 5 179130005 stop gained C/T snv 0.010 1.000 1 2007 2007