rs28936686, SSUH2;CAV3

N. diseases: 4
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.
Rippling muscle disease
CUI: C1853698
Disease: Rippling muscle disease
6 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 1.000 3 2003 2010
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 1.000 2 2003 2005
RIPPLING MUSCLE DISEASE 2 (disorder)
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
14 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 0
RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
CUI: C4016724
Disease: RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
1 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 0