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: rs1057516278
rs1057516278
1 1.000 0.080 1 75761289 frameshift variant -/G delins 0.700 1.000 1 2012 2012
dbSNP: rs875989875
rs875989875
1 1.000 0.080 1 75728472 stop gained -/GATTTAG delins 0.700 0
dbSNP: rs786204566
rs786204566
1 1.000 0.080 1 75732879 frameshift variant -/T delins 0.700 1.000 7 2001 2012
dbSNP: rs875989864
rs875989864
1 1.000 0.080 1 75750524 frameshift variant -/T delins 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs875989877
rs875989877
1 1.000 0.080 1 75761364 frameshift variant -/T delins 0.700 0
dbSNP: rs1225471006
rs1225471006
1 1.000 0.080 1 75761173 stop gained -/TAGAATGAGTTAC delins 3.2E-05 2.8E-05 0.700 1.000 2 1984 1991
dbSNP: rs875989874
rs875989874
1 1.000 0.080 1 75761187 stop gained -/TAGAATGAGTTAC delins 0.700 0
dbSNP: rs1057517411
rs1057517411
1 1.000 0.080 1 75761247 frameshift variant A/- delins 0.700 0
dbSNP: rs1553127216
rs1553127216
1 1.000 0.080 1 75761366 missense variant A/C snv 0.700 1.000 3 2007 2016
dbSNP: rs758753966
rs758753966
1 1.000 0.080 1 75761120 splice acceptor variant A/C snv 8.0E-06 0.700 1.000 3 2006 2014
dbSNP: rs1553123857
rs1553123857
1 1.000 0.080 1 75739978 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1553125211
rs1553125211
1 1.000 0.080 1 75749417 splice acceptor variant A/C snv 0.700 0
dbSNP: rs751829413
rs751829413
1 1.000 0.080 1 75745815 missense variant A/C snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs77931234
rs77931234
3 0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03 0.900 1.000 58 1990 2020
dbSNP: rs879234543
rs879234543
1 1.000 0.080 1 75762690 splice acceptor variant A/C;T snv 0.700 0
dbSNP: rs121434279
rs121434279
1 1.000 0.080 1 75740088 missense variant A/G snv 0.800 1.000 16 1990 2001
dbSNP: rs201375579
rs201375579
1 1.000 0.080 1 75749507 missense variant A/G snv 3.2E-04 1.7E-04 0.700 1.000 6 2005 2014
dbSNP: rs773677327
rs773677327
1 1.000 0.080 1 75740091 missense variant A/G snv 2.0E-05 0.700 1.000 4 2008 2016
dbSNP: rs1057518677
rs1057518677
1 1.000 0.080 1 75733526 splice acceptor variant A/G snv 0.700 1.000 2 2005 2010
dbSNP: rs757434857
rs757434857
1 1.000 0.080 1 75732659 missense variant A/G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs761317029
rs761317029
1 1.000 0.080 1 75750449 splice acceptor variant A/G snv 8.2E-06 0.700 1.000 1 2005 2005
dbSNP: rs1057516778
rs1057516778
1 1.000 0.080 1 75724788 start lost A/G snv 0.700 0
dbSNP: rs1227800781
rs1227800781
1 1.000 0.080 1 75761231 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs875989867
rs875989867
1 1.000 0.080 1 75749452 missense variant A/G snv 0.700 0
dbSNP: rs1462472677
rs1462472677
1 1.000 0.080 1 75762704 missense variant A/G;T snv 4.0E-06 0.700 1.000 2 2010 2017