rs868694193, REN

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.
Allanson Pantzar McLeod syndrome
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
23 1.000 0.120 1 204161355 missense variant C/T snv 4.1E-06 0.700 0
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 1.000 0.120 1 204161355 missense variant C/T snv 4.1E-06 0.010 1.000 1 2017 2017