Gene: ALDH7A1 ×
Source: ALL
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: rs121912707
rs121912707
ALDH7A1
3 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.700 1.000 8 2006 2017
dbSNP: rs121912708
rs121912708
ALDH7A1
3 1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06 0.700 0
dbSNP: rs140845195
rs140845195
ALDH7A1
3 1.000 0.040 5 126545020 splice acceptor variant C/A;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs1444879414
rs1444879414
ALDH7A1
1 5 126595148 frameshift variant -/T delins 6.0E-06 0.700 0
dbSNP: rs750693623
rs750693623
ALDH7A1
2 1.000 0.040 5 126595165 frameshift variant C/- del 5.6E-04 0.700 0
dbSNP: rs778003597
rs778003597
ALDH7A1
1 5 126559300 frameshift variant -/G delins 8.0E-06 7.0E-06 0.700 0