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: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs140119177
rs140119177
FAM120AOS
7 0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 0.700 0
dbSNP: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs587784105
rs587784105
NSD1
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs11127
rs11127
GNLY
3 0.925 0.160 2 85697606 missense variant C/T snv 0.39 0.31 0.010 1.000 1 2012 2012
dbSNP: rs13332514
rs13332514
ABCA3
2 0.925 0.080 16 2317335 synonymous variant G/A snv 0.17 0.12 0.010 1.000 1 2008 2008
dbSNP: rs1561285
rs1561285
GNLY
2 0.925 0.160 2 85697261 non coding transcript exon variant C/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs2886767
rs2886767
GNLY
2 0.925 0.160 2 85693206 intron variant T/C snv 0.29 0.010 1.000 1 2012 2012