rs397514487, POC1A

N. diseases: 3
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.
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 0.700 0
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
9 0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 0.700 0
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
CUI: C3542022
Disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
3 0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 0.700 0