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: rs1555672928
rs1555672928
CFAP53
1 1.000 0.080 18 50261063 splice acceptor variant TTGCTGGTCTAGCTTTTCAGCCACAAAATCCTGCCTCTCTTTTTCATTCTTCTCTTTTAGTAATTTAGTTTTCTCTCTCATCCTATCTTTTTTCTCCTCAATGGTTTCTTTCTTCAATTGCATTTCTGTAAAATACTCATTTTCTTCTAATGCTAAAAGCTCACGTAGCCTGAA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037751
rs886037751
CFAP53
2 0.925 0.080 18 50261065 missense variant T/C snv 1.3E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1565295267
rs1565295267
MYRF ; TMEM258
6 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0
dbSNP: rs786205645
rs786205645
NEK1
9 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
dbSNP: rs875989800
rs875989800
SMARCB1
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
dbSNP: rs886039806
rs886039806
KIAA0586
8 0.851 0.160 14 58467887 missense variant T/A;C;G snv 0.700 0