rs1565569158, ATN1

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.
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 12 6939148 missense variant A/G snv 0.700 0
Renal hypoplasia/aplasia
CUI: C1857453
Disease: Renal hypoplasia/aplasia
2 12 6939148 missense variant A/G snv 0.700 0
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
16 12 6939148 missense variant A/G snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 12 6939148 missense variant A/G snv 0.700 0