Gene: DNAAF5 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs767713588
rs767713588
DNAAF5
1 7 756995 splice donor variant G/A;T snv 4.7E-05 0.700 1.000 2 2014 2014
dbSNP: rs397514561
rs397514561
DNAAF5
2 1.000 7 780097 missense variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs1554248794
rs1554248794
PRKAR1B ; DNAAF5
1 7 727077 frameshift variant CGCCGCGCGCT/- delins 0.700 0
dbSNP: rs1554248887
rs1554248887
PRKAR1B ; DNAAF5
1 7 727209 splice donor variant CCTGGACGAC/- del 0.700 0
dbSNP: rs1554255966
rs1554255966
DNAAF5
1 7 775031 frameshift variant TGCCCCA/CCACCCTGGGT delins 0.700 0
dbSNP: rs765025514
rs765025514
DNAAF5
1 7 770470 splice acceptor variant G/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs878855036
rs878855036
DNAAF5
1 7 780064 frameshift variant AG/- delins 0.700 0
dbSNP: rs950490534
rs950490534
DNAAF5
1 7 780059 stop gained C/G snv 8.0E-06 1.4E-05 0.700 0