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: rs730882143
rs730882143
MFRP ; C1QTNF5
1 1.000 0.120 11 119345569 frameshift variant -/A;GA ins 0.700 1.000 2 2010 2014
dbSNP: rs797045054
rs797045054
MFRP ; C1QTNF5
1 1.000 0.120 11 119344332 stop gained G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1245503127
rs1245503127
MFRP ; C1QTNF5
1 1.000 0.120 11 119344393 splice acceptor variant T/A;C snv 7.0E-06 0.700 0
dbSNP: rs150232843
rs150232843
MFRP ; C1QTNF5
1 1.000 0.120 11 119346116 stop gained C/T snv 1.3E-05 3.5E-05 0.700 0
dbSNP: rs1565295426
rs1565295426
MFRP ; C1QTNF5
1 1.000 0.120 11 119345432 frameshift variant C/- delins 0.700 0
dbSNP: rs587776595
rs587776595
MFRP ; C1QTNF5
2 0.925 0.120 11 119342978 frameshift variant GGG/-;GG;GGGG delins 0.700 0
dbSNP: rs587776596
rs587776596
MFRP ; C1QTNF5
2 0.925 0.120 11 119345563 frameshift variant G/-;GG delins 1.2E-04 0.700 0
dbSNP: rs730882141
rs730882141
MFRP ; C1QTNF5
1 1.000 0.120 11 119344339 stop gained G/T snv 8.0E-06 0.700 0
dbSNP: rs730882142
rs730882142
MFRP ; C1QTNF5
1 1.000 0.120 11 119341663 frameshift variant CAGA/- delins 0.700 0
dbSNP: rs730882144
rs730882144
MFRP ; C1QTNF5
1 1.000 0.120 11 119341739 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs749156010
rs749156010
MFRP ; C1QTNF5
1 1.000 0.120 11 119346324 frameshift variant -/G delins 8.1E-06 7.0E-06 0.700 0
dbSNP: rs770341402
rs770341402
MFRP ; C1QTNF5
1 1.000 0.120 11 119345803 stop gained C/A snv 1.2E-05 1.4E-05 0.700 0