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: rs121912620
rs121912620
SLC45A2
1 1.000 0.160 5 33944784 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 7 2001 2013
dbSNP: rs121912621
rs121912621
SLC45A2
1 1.000 0.160 5 33982329 missense variant C/T snv 4.0E-06 0.800 1.000 7 2001 2013
dbSNP: rs760780597
rs760780597
SLC45A2
1 1.000 0.160 5 33982320 missense variant C/A;G snv 4.0E-06 0.710 1.000 7 2001 2013
dbSNP: rs121912619
rs121912619
SLC45A2
1 1.000 0.160 5 33951628 missense variant A/G snv 4.0E-05 6.3E-05 0.700 1.000 7 2001 2013
dbSNP: rs1290584600
rs1290584600
SLC45A2
1 1.000 0.160 5 33984412 missense variant G/C snv 4.0E-06 0.700 1.000 7 2001 2013
dbSNP: rs1352999116
rs1352999116
SLC45A2
1 1.000 0.160 5 33944812 missense variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 7 2001 2013
dbSNP: rs144503724
rs144503724
SLC45A2
1 1.000 0.160 5 33947277 missense variant G/A;T snv 3.5E-04; 4.0E-06 0.700 1.000 7 2001 2013
dbSNP: rs146802593
rs146802593
SLC45A2
1 1.000 0.160 5 33963973 missense variant C/G snv 2.3E-04 1.8E-04 0.700 1.000 7 2001 2013
dbSNP: rs146930801
rs146930801
SLC45A2
1 1.000 0.160 5 33951665 missense variant C/T snv 7.2E-05 4.9E-05 0.700 1.000 7 2001 2013
dbSNP: rs372465070
rs372465070
SLC45A2
1 1.000 0.160 5 33951668 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 7 2001 2013
dbSNP: rs553073635
rs553073635
SLC45A2
1 1.000 0.160 5 33954489 missense variant T/A snv 4.5E-04 8.4E-05 0.700 1.000 7 2001 2013
dbSNP: rs762813061
rs762813061
SLC45A2
1 1.000 0.160 5 33984256 missense variant C/T snv 4.0E-06 0.700 1.000 7 2001 2013
dbSNP: rs775387808
rs775387808
SLC45A2
1 1.000 0.160 5 33984320 frameshift variant G/- del 1.0E-04 0.700 1.000 2 2005 2014
dbSNP: rs759411189
rs759411189
SLC45A2
1 1.000 0.160 5 33947258 frameshift variant G/- delins 1.6E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518722
rs1057518722
SLC45A2
1 1.000 0.160 5 33984420 frameshift variant -/A delins 0.700 0
dbSNP: rs1294369944
rs1294369944
SLC45A2
1 1.000 0.160 5 33947162 splice donor variant C/A snv 4.0E-06 0.700 0
dbSNP: rs1307137184
rs1307137184
SLC45A2
1 1.000 0.160 5 33951608 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs387906317
rs387906317
SLC45A2
1 1.000 0.160 5 33954407 frameshift variant G/- del 0.700 0
dbSNP: rs387906318
rs387906318
SLC45A2
1 1.000 0.160 5 33963915 inframe deletion GAA/- delins 7.0E-06 0.700 0
dbSNP: rs562624441
rs562624441
SLC45A2
1 1.000 0.160 5 33984374 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs730880270
rs730880270
SLC45A2
1 1.000 0.160 5 33964017 splice acceptor variant C/T snv 0.700 0
dbSNP: rs730880271
rs730880271
SLC45A2
1 1.000 0.160 5 33951589 frameshift variant A/- delins 0.700 0
dbSNP: rs753485165
rs753485165
SLC45A2
1 1.000 0.160 5 33951633 frameshift variant CT/- delins 4.9E-05 0.700 0
dbSNP: rs797045970
rs797045970
SLC45A2
1 1.000 0.160 5 33964001 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs925113610
rs925113610
SLC45A2
1 1.000 0.160 5 33984405 missense variant A/C snv 8.0E-06 0.700 0