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: rs587779768
rs587779768
AHDC1
7 0.851 0.200 1 27549569 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1135401761
rs1135401761
AHDC1
2 0.925 0.200 1 27548302 stop gained G/A;C snv 0.700 0
dbSNP: rs1165205177
rs1165205177
AHDC1
1 1.000 0.200 1 27550054 stop gained G/A;C snv 4.1E-06 0.700 0
dbSNP: rs1553158393
rs1553158393
AHDC1
1 1.000 0.200 1 27548619 stop gained G/C snv 0.700 0
dbSNP: rs1553158517
rs1553158517
AHDC1
1 1.000 0.200 1 27548947 stop gained CA/- delins 0.700 0
dbSNP: rs1553159383
rs1553159383
AHDC1
1 1.000 0.200 1 27550597 stop gained T/A snv 0.700 0
dbSNP: rs1553159764
rs1553159764
AHDC1
1 1.000 0.200 1 27551184 frameshift variant C/- delins 0.700 0
dbSNP: rs1553159979
rs1553159979
AHDC1
1 1.000 0.200 1 27551566 frameshift variant C/- delins 0.700 0
dbSNP: rs1557655967
rs1557655967
AHDC1
1 1.000 0.200 1 27547746 missense variant T/C snv 0.700 0
dbSNP: rs1557667078
rs1557667078
AHDC1
2 1.000 0.200 1 27551119 frameshift variant C/- delins 0.700 0
dbSNP: rs587779766
rs587779766
AHDC1
7 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 0
dbSNP: rs587779767
rs587779767
AHDC1
7 0.851 0.200 1 27549218 frameshift variant G/- delins 0.700 0
dbSNP: rs886039900
rs886039900
AHDC1
8 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0