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: rs200626873
rs200626873
ADPRS
1 1.000 1 36091923 missense variant C/T snv 4.1E-06 0.800 1.000 2 2018 2018
dbSNP: rs201735454
rs201735454
ADPRS
1 1.000 1 36093298 missense variant T/C;G snv 8.4E-05 0.800 1.000 2 2018 2018
dbSNP: rs1557732234
rs1557732234
ADPRS
1 1.000 1 36089004 missense variant G/A snv 0.700 0
dbSNP: rs1557733311
rs1557733311
ADPRS
1 1.000 1 36091267 missense variant A/C snv 0.700 0
dbSNP: rs1557733367
rs1557733367
ADPRS
1 1.000 1 36091323 frameshift variant G/- delins 0.700 0
dbSNP: rs1557733597
rs1557733597
ADPRS
1 1.000 1 36091721 frameshift variant TGCCC/- delins 0.700 0
dbSNP: rs1557734377
rs1557734377
ADPRS
1 1.000 1 36093294 stop gained C/T snv 0.700 0
dbSNP: rs368433666
rs368433666
ADPRS
1 1.000 1 36091625 stop gained C/G;T snv 2.1E-05; 8.3E-06 0.700 0