Gene: DNAAF4 ×
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: rs1060503095
rs1060503095
DNAAF4 ; DNAAF4-CCPG1
1 15 55497816 frameshift variant GGA/AG delins 0.700 0
dbSNP: rs1200826286
rs1200826286
DNAAF4 ; DNAAF4-CCPG1
1 15 55498274 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1302509857
rs1302509857
DNAAF4 ; DNAAF4-CCPG1
1 15 55498299 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs397515621
rs397515621
DNAAF4 ; DNAAF4-CCPG1
2 1.000 15 55439557 stop gained G/A;C snv 1.2E-05 0.700 0
dbSNP: rs751610886
rs751610886
DNAAF4 ; DNAAF4-CCPG1
1 15 55467044 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs944647296
rs944647296
DNAAF4 ; DNAAF4-CCPG1
1 15 55491122 splice donor variant C/T snv 4.0E-06 7.0E-06 0.700 0