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: rs267606652
rs267606652
ALG11
1 1.000 0.080 13 52019125 missense variant T/C snv 0.800 1.000 2 2010 2012
dbSNP: rs387907181
rs387907181
UTP14C ; ALG11
1 1.000 0.080 13 52024566 missense variant A/C snv 0.800 1.000 2 2010 2012
dbSNP: rs387907182
rs387907182
UTP14C ; ALG11
1 1.000 0.080 13 52024872 missense variant T/C snv 0.800 1.000 2 2010 2012
dbSNP: rs387907183
rs387907183
UTP14C ; ALG11
1 1.000 0.080 13 52024922 missense variant G/A snv 0.800 1.000 2 2010 2012
dbSNP: rs387907184
rs387907184
UTP14C ; ALG11
1 1.000 0.080 13 52024683 missense variant A/C snv 0.800 1.000 2 2010 2012
dbSNP: rs387907180
rs387907180
UTP14C ; ALG11
1 1.000 0.080 13 52024352 frameshift variant CTGTAGTGAAGAATCAAAAT/- delins 0.700 0