rs104894613, NOG

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.
SYMPHALANGISM, PROXIMAL, 1A
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
12 0.882 0.040 17 56594609 stop gained T/A snv 0.700 0
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.882 0.040 17 56594609 stop gained T/A snv 0.010 1.000 1 2001 2001
Multiple synostosis syndrome
CUI: C0175700
Disease: Multiple synostosis syndrome
2 0.882 0.040 17 56594609 stop gained T/A snv 0.010 1.000 1 2001 2001