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: rs121909762
rs121909762
ADGRV1
4 0.851 0.200 5 90690991 stop gained C/G;T snv 4.0E-06; 4.8E-05 0.700 1.000 2 2004 2015
dbSNP: rs756460900
rs756460900
ADGRV1
1 1.000 0.200 5 90965491 missense variant A/G snv 2.1E-05 0.700 1.000 2 2004 2012
dbSNP: rs869312178
rs869312178
ADGRV1
1 1.000 0.200 5 90628554 splice region variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1060499795
rs1060499795
ADGRV1 ; LOC105379077
1 1.000 0.200 5 90728933 missense variant G/A snv 0.700 0
dbSNP: rs1060499796
rs1060499796
ADGRV1
1 1.000 0.200 5 90644869 splice region variant G/A snv 0.700 0
dbSNP: rs1131691924
rs1131691924
ADGRV1
1 1.000 0.200 5 90791194 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121909763
rs121909763
ADGRV1
1 1.000 0.200 5 90985501 missense variant A/G snv 0.700 0
dbSNP: rs1561416879
rs1561416879
ADGRV1
6 0.925 0.200 5 90629308 stop gained C/G snv 0.700 0
dbSNP: rs1561441451
rs1561441451
ADGRV1
2 1.000 0.200 5 90642715 stop gained G/T snv 0.700 0
dbSNP: rs1561543496
rs1561543496
ADGRV1
2 1.000 0.200 5 90694641 stop gained G/T snv 0.700 0
dbSNP: rs1561660434
rs1561660434
ADGRV1
1 1.000 0.200 5 90753573 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1561790371
rs1561790371
ADGRV1
2 1.000 0.200 5 90815669 stop gained G/T snv 0.700 0
dbSNP: rs1561805689
rs1561805689
ADGRV1
2 1.000 0.200 5 90823424 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1561843914
rs1561843914
ADGRV1
2 1.000 0.200 5 90848817 stop gained G/T snv 0.700 0
dbSNP: rs369793306
rs369793306
ADGRV1
1 1.000 0.200 5 90776485 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs373780305
rs373780305
ADGRV1
2 0.925 0.200 5 90642886 stop gained C/T snv 3.3E-05 1.4E-05 0.700 0
dbSNP: rs377650415
rs377650415
ADGRV1
2 1.000 0.200 5 90815654 stop gained G/A;T snv 1.4E-05 0.700 0
dbSNP: rs527236131
rs527236131
ADGRV1
1 1.000 0.200 5 90810996 stop gained C/T snv 0.700 0
dbSNP: rs527236132
rs527236132
ADGRV1
1 1.000 0.200 5 90774304 splice donor variant G/C;T snv 4.1E-06 0.700 0
dbSNP: rs527236133
rs527236133
ADGRV1
1 1.000 0.200 5 90692659 stop gained C/T snv 4.1E-06 0.700 0
dbSNP: rs747622607
rs747622607
ADGRV1
2 0.925 0.200 5 90848679 stop gained C/T snv 4.9E-06 2.1E-05 0.700 0
dbSNP: rs757696771
rs757696771
ADGRV1
1 1.000 0.200 5 90855814 frameshift variant AT/- del 6.3E-05 0.700 0
dbSNP: rs796051863
rs796051863
ADGRV1
1 1.000 0.200 5 90706376 frameshift variant -/AACA delins 0.700 0
dbSNP: rs796051864
rs796051864
ADGRV1
1 1.000 0.200 5 90708874 frameshift variant C/- delins 0.700 0
dbSNP: rs796051865
rs796051865
ADGRV1 ; LUCAT1 ; LOC107986432
1 1.000 0.200 5 91153324 frameshift variant TGGCCAGGGGTCACTGATA/- delins 0.700 0