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: rs121908190
rs121908190
MFRP ; C1QTNF5
1 1.000 0.080 11 119345516 missense variant A/G snv 0.800 1.000 1 2005 2005
dbSNP: rs121908189
rs121908189
MFRP ; C1QTNF5
1 1.000 0.080 11 119345538 stop gained G/A snv 4.0E-05 7.0E-06 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