rs1057519324, NPR2

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.
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
17 0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 0.700 0
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 0.700 0