rs1556886034, SMC1A

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.080 X 53382594 missense variant C/T snv 0.700 1.000 16 1995 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 0.080 X 53382594 missense variant C/T snv 0.700 1.000 16 1995 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.080 X 53382594 missense variant C/T snv 0.700 1.000 16 1995 2017
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
50 0.925 0.080 X 53382594 missense variant C/T snv 0.700 1.000 1 2015 2015