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: rs1476515561
rs1476515561
MMUT
1 1.000 0.080 6 49451684 frameshift variant TGCAGTACGGACAATATTATTGT/- delins 7.0E-06 0.700 0
dbSNP: rs879253831
rs879253831
MMUT
1 1.000 0.080 6 49457829 inframe deletion TCT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1446389693
rs1446389693
MMUT
1 1.000 0.080 6 49457790 missense variant T/G snv 4.0E-06 1.4E-05 0.800 1.000 20 1990 2017
dbSNP: rs368790885
rs368790885
MMUT
1 1.000 0.080 6 49451690 missense variant T/G snv 4.0E-06 1.4E-05 0.700 1.000 20 1990 2017
dbSNP: rs563776413
rs563776413
MMUT
1 1.000 0.080 6 49451707 missense variant T/C;G snv 4.0E-05 1.4E-05 0.700 1.000 20 1990 2017
dbSNP: rs766010704
rs766010704
MMUT
1 1.000 0.080 6 49451636 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.700 1.000 20 1990 2017
dbSNP: rs372486357
rs372486357
MMUT
1 1.000 0.080 6 49440282 missense variant T/C snv 1.2E-05 2.1E-05 0.800 1.000 23 1990 2017
dbSNP: rs1461110052
rs1461110052
MMUT
1 1.000 0.080 6 49459141 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 20 1990 2017
dbSNP: rs768521956
rs768521956
MMUT
1 1.000 0.080 6 49440291 missense variant T/C snv 4.0E-06 0.700 1.000 20 1990 2017
dbSNP: rs781474200
rs781474200
MMUT
1 1.000 0.080 6 49453721 missense variant T/C snv 2.8E-05 5.6E-05 0.700 1.000 20 1990 2017
dbSNP: rs864309735
rs864309735
MMUT
1 1.000 0.080 6 49459168 missense variant T/C snv 4.0E-06 0.800 1.000 20 1990 2017
dbSNP: rs864309737
rs864309737
MMUT
1 1.000 0.080 6 49451701 missense variant T/C snv 0.800 1.000 20 1990 2017
dbSNP: rs879253847
rs879253847
MMUT
1 1.000 0.080 6 49440288 missense variant T/C snv 0.800 1.000 20 1990 2017
dbSNP: rs777031588
rs777031588
MMUT
1 1.000 0.080 6 49451724 intron variant T/C snv 3.2E-05 2.8E-05 0.700 1.000 3 2012 2017
dbSNP: rs1554158379
rs1554158379
MMUT
1 1.000 0.080 6 49435625 splice acceptor variant T/C snv 0.700 1.000 2 2006 2012
dbSNP: rs879253839
rs879253839
MMUT
1 1.000 0.080 6 49451716 splice acceptor variant T/C snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs115923556
rs115923556
MMUT
1 1.000 0.080 6 49459262 missense variant T/C snv 2.0E-03 2.4E-03 0.700 0
dbSNP: rs147094927
rs147094927
MMUT
1 1.000 0.080 6 49435547 missense variant T/C snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs796052005
rs796052005
MMUT
1 1.000 0.080 6 49459138 missense variant T/C snv 0.700 0
dbSNP: rs866933356
rs866933356
MMUT
1 1.000 0.080 6 49451641 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs869320653
rs869320653
MMUT
1 1.000 0.080 6 49457791 missense variant T/C snv 0.700 0
dbSNP: rs200908035
rs200908035
MMUT
1 1.000 0.080 6 49457878 missense variant T/A;C snv 4.0E-06; 4.9E-04 0.800 1.000 20 1990 2017
dbSNP: rs1405705785
rs1405705785
MMUT
1 1.000 0.080 6 49456239 splice acceptor variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121918256
rs121918256
MMUT
3 0.925 0.080 6 49457789 missense variant T/A snv 6.8E-05 2.8E-05 0.800 1.000 21 1990 2017
dbSNP: rs757000253
rs757000253
MMUT
1 1.000 0.080 6 49457977 missense variant T/A snv 0.800 1.000 20 1990 2017