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: rs876658770
rs876658770
1 5 132640768 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2000 2015
dbSNP: rs876659654
rs876659654
1 5 132642212 stop gained C/T snv 0.700 1.000 4 2007 2014
dbSNP: rs1060501933
rs1060501933
1 5 132642195 stop gained C/A snv 4.0E-06 0.700 1.000 3 2000 2015
dbSNP: rs151131414
rs151131414
1 5 132638080 splice acceptor variant G/C snv 4.0E-06 0.700 1.000 2 2006 2009
dbSNP: rs761168506
rs761168506
1 5 132637202 splice donor variant T/C snv 4.0E-06 0.700 1.000 2 2006 2009
dbSNP: rs786202259
rs786202259
1 5 132642204 frameshift variant G/- del 0.700 1.000 2 2010 2014
dbSNP: rs995265408
rs995265408
1 5 132638215 splice donor variant ACAAAAGGCAGG/- delins 0.700 1.000 2 2006 2009
dbSNP: rs778555849
rs778555849
1 5 132638158 stop gained C/T snv 2.4E-05 3.5E-05 0.700 1.000 1 2017 2017
dbSNP: rs1423570602
rs1423570602
1 5 132638128 frameshift variant TTCTGATAAAAGGC/- delins 7.0E-06 0.700 0
dbSNP: rs1554100863
rs1554100863
1 5 132637162 frameshift variant -/TA delins 0.700 0
dbSNP: rs1554100940
rs1554100940
1 5 132638081 frameshift variant A/- del 0.700 0
dbSNP: rs1554100942
rs1554100942
1 5 132638087 frameshift variant A/- delins 0.700 0
dbSNP: rs1554101172
rs1554101172
1 5 132640691 frameshift variant T/- delins 0.700 0
dbSNP: rs1554101189
rs1554101189
1 5 132640757 frameshift variant -/A delins 0.700 0
dbSNP: rs1554101314
rs1554101314
1 5 132642177 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1561661777
rs1561661777
1 5 132642203 stop gained -/GTAACTTCCAGCT delins 0.700 0
dbSNP: rs587781925
rs587781925
1 5 132638224 splice donor variant G/A snv 0.700 0
dbSNP: rs587782866
rs587782866
1 5 132638069 splice acceptor variant CCTGTGTCAGATATT/- delins 0.700 0
dbSNP: rs745797941
rs745797941
1 5 132637179 stop gained C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs750586158
rs750586158
1 5 132638203 stop gained C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs761837416
rs761837416
1 5 132638197 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs878854799
rs878854799
2 1.000 0.200 5 132638094 frameshift variant AGAAATA/- del 0.700 0