rs1555788577, RYR1

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.
Distal arthrogryposis syndrome
CUI: C0265213
Disease: Distal arthrogryposis syndrome
15 1.000 0.080 19 38517523 missense variant T/C snv 0.700 0