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: rs1562332833
rs1562332833
ARMC2
1 1.000 0.040 6 108868953 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1562372417
rs1562372417
ARMC2
2 1.000 0.040 6 108904406 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1562381747
rs1562381747
ARMC2 ; ARMC2-AS1
1 1.000 0.040 6 108912489 frameshift variant ACAAA/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1562435988
rs1562435988
ARMC2
1 1.000 0.040 6 108964306 missense variant T/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1562436860
rs1562436860
ARMC2
1 1.000 0.040 6 108965046 frameshift variant TT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs199671406
rs199671406
WDR66
4 0.925 0.040 12 121921636 stop gained G/T snv 1.0E-03 9.6E-04 0.700 0
dbSNP: rs749163856
rs749163856
WDR66
3 0.925 0.040 12 121921425 frameshift variant A/- delins 8.0E-06 0.700 0