Gene: ABHD5 ×
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: rs104893676
rs104893676
ABHD5 ; ANO10
1 1.000 0.200 3 43691011 missense variant G/A snv 1.3E-04 8.5E-04 0.800 1.000 4 2001 2008
dbSNP: rs28939077
rs28939077
ABHD5
1 1.000 0.200 3 43702470 missense variant A/C snv 0.800 1.000 4 2001 2008
dbSNP: rs28939078
rs28939078
ABHD5
1 1.000 0.200 3 43717675 missense variant G/A snv 4.0E-06 0.800 1.000 4 2001 2008
dbSNP: rs761087968
rs761087968
ABHD5
1 1.000 0.200 3 43717831 stop gained C/A;T snv 2.4E-05 0.700 1.000 1 1982 1982
dbSNP: rs104893675
rs104893675
ABHD5
1 1.000 0.200 3 43699326 stop gained C/G snv 0.700 0
dbSNP: rs387906335
rs387906335
ABHD5
1 1.000 0.200 3 43711795 frameshift variant -/C delins 0.700 0
dbSNP: rs387906336
rs387906336
ABHD5 ; ANO10
1 1.000 0.200 3 43691033 frameshift variant AG/- delins 0.700 0