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: rs137852638
rs137852638
HMGCS2
1 1.000 0.080 1 119759915 missense variant C/T snv 2.2E-04 2.6E-04 0.800 1.000 7 2001 2015
dbSNP: rs137852636
rs137852636
HMGCS2
1 1.000 0.080 1 119764211 missense variant A/G snv 1.0E-04 3.5E-05 0.800 1.000 3 2001 2003
dbSNP: rs137852639
rs137852639
HMGCS2
1 1.000 0.080 1 119750830 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 3 2001 2003
dbSNP: rs137852640
rs137852640
HMGCS2
1 1.000 0.080 1 119764231 missense variant T/C snv 4.0E-06 0.800 1.000 3 2001 2003
dbSNP: rs28937320
rs28937320
HMGCS2
1 1.000 0.080 1 119764571 missense variant C/T snv 8.0E-06 0.800 1.000 3 2001 2003
dbSNP: rs1553240165
rs1553240165
HMGCS2
1 1.000 0.080 1 119755599 splice acceptor variant T/- del 0.700 0
dbSNP: rs1553240525
rs1553240525
HMGCS2
1 1.000 0.080 1 119759196 frameshift variant A/- delins 0.700 0
dbSNP: rs764706394
rs764706394
HMGCS2
1 1.000 0.080 1 119755426 splice donor variant C/G snv 1.2E-05 0.700 0