rs374279734, ASPH

N. diseases: 2
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.
EAR, PATELLA, SHORT STATURE SYNDROME
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
12 0.925 0.280 8 61653585 missense variant T/C snv 8.0E-06 4.2E-05 0.010 1.000 1 2015 2015
MUNGAN SYNDROME
CUI: C1969653
Disease: MUNGAN SYNDROME
6 0.925 0.280 8 61653585 missense variant T/C snv 8.0E-06 4.2E-05 0.010 1.000 1 2015 2015