rs397514735, DNM2

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.
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
1 0.925 0.080 19 10795378 missense variant T/G snv 0.800 1.000 1 2013 2013
Akinesia
CUI: C0085623
Disease: Akinesia
3 0.925 0.080 19 10795378 missense variant T/G snv 0.010 1.000 1 2013 2013