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: rs104886461
rs104886461
MCOLN1 ; LOC105372261
2 0.925 0.160 19 7526759 splice acceptor variant A/G snv 2.1E-04 8.4E-05 0.700 1.000 5 2000 2013
dbSNP: rs200646278
rs200646278
GNPTAB
3 0.882 0.160 12 101770429 stop gained G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2010 2013
dbSNP: rs281865009
rs281865009
GNPTAB
3 0.882 0.160 12 101761171 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 2 2010 2012
dbSNP: rs281865024
rs281865024
GNPTAB
3 0.882 0.160 12 101780574 frameshift variant TCTG/- delins 0.700 1.000 2 2006 2015
dbSNP: rs281864964
rs281864964
GNPTAB
2 0.925 0.160 12 101780173 frameshift variant -/T delins 4.0E-06 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs281864996
rs281864996
GNPTAB
10 0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs35576380
rs35576380
CHPT1 ; GNPTAB
1 1.000 0.160 12 101749192 splice acceptor variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs1060499690
rs1060499690
GNPTG
2 0.925 0.160 16 1362044 stop gained G/A snv 0.700 0
dbSNP: rs34159654
rs34159654
GNPTAB
3 0.882 0.160 12 101830666 missense variant T/G snv 2.0E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs398123392
rs398123392
CYP21A2 ; NEU1
3 0.882 0.160 6 31861259 missense variant T/C;G snv 1.1E-04 0.010 1.000 1 2018 2018