rs1557500194, PLOD1

N. diseases: 1
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 type 6
CUI: C0268342
Disease: Ehlers-Danlos syndrome type 6
14 1.000 0.160 1 11970709 frameshift variant A/- del 0.700 0