Gene: ABHD12 ×
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: rs758316679
rs758316679
ABHD12
1 20 25339350 stop gained G/A snv 2.0E-05 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1555811525
rs1555811525
ABHD12
1 20 25309577 splice acceptor variant T/C snv 0.700 0