rs104894612, 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 0.080 17 56594774 missense variant G/A snv 0.800 1.000 4 1999 2005
Multiple synostosis syndrome
CUI: C0175700
Disease: Multiple synostosis syndrome
2 0.882 0.080 17 56594774 missense variant G/A snv 0.010 1.000 1 2001 2001
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.882 0.080 17 56594774 missense variant G/A snv 0.010 1.000 1 2001 2001