SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs776240936
rs776240936
1.000 0.040 5 156508620 missense variant G/C snv 3.6E-05 1.4E-05
CUI: C0009917
Disease: Contracture
Contracture
Musculoskeletal Diseases 0.010 1.000 1 2016 2016