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: rs1555248020
rs1555248020
MED13L
3 1.000 12 116009052 stop gained G/C snv 0.700 1.000 16 1971 2018
dbSNP: rs797044915
rs797044915
COL11A2
2 1.000 6 33176015 splice donor variant C/A snv 0.700 1.000 17 1975 2012
dbSNP: rs1555205335
rs1555205335
TRPV4
1 12 109788404 missense variant A/C snv 0.700 1.000 24 1976 2017
dbSNP: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 24 1976 2017
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
4 0.925 17 59677123 frameshift variant -/GA delins 0.700 1.000 23 1976 2017
dbSNP: rs1554396271
rs1554396271
COL1A2
3 0.925 0.120 7 94410899 missense variant G/A;T snv 0.700 1.000 16 1979 2018
dbSNP: rs72658127
rs72658127
COL1A2
2 1.000 7 94413139 splice region variant A/G snv 0.700 1.000 16 1979 2018
dbSNP: rs137852217
rs137852217
AMER1
4 0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 0.700 1.000 8 1980 2017
dbSNP: rs781752990
rs781752990
KIF7
2 1.000 15 89652601 splice donor variant A/C snv 3.5E-05 4.2E-05 0.700 1.000 8 1980 2015
dbSNP: rs121918550
rs121918550
AAAS
5 1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 0.700 1.000 6 1980 2015
dbSNP: rs763100457
rs763100457
MAN2B1
2 1.000 0.080 19 12652271 splice acceptor variant C/A snv 8.0E-06 2.1E-05 0.700 1.000 6 1981 2015
dbSNP: rs80338677
rs80338677
MAN2B1
4 0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 0.700 1.000 6 1981 2015
dbSNP: rs1554231814
rs1554231814
ARID1B
1 6 157184262 frameshift variant C/- del 0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424
ARID1B
2 1.000 6 157196295 stop gained T/A snv 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054
ARID1B
3 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
dbSNP: rs797045282
rs797045282
ARID1B
2 1.000 0.280 6 157206545 stop gained C/T snv 0.700 1.000 20 1984 2017
dbSNP: rs917027829
rs917027829
CSF1R
3 1.000 5 150069942 stop gained G/A;T snv 4.0E-06 0.700 1.000 13 1984 2014
dbSNP: rs121918490
rs121918490
FGFR2
6 0.851 0.080 10 121517342 missense variant G/C snv 0.700 1.000 26 1985 2017
dbSNP: rs1554928978
rs1554928978
FGFR2
2 1.000 10 121517425 splice acceptor variant CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- delins 0.700 1.000 26 1985 2017
dbSNP: rs121434407
rs121434407
GLE1 ; LOC101929270
5 0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 0.700 1.000 7 1985 2017
dbSNP: rs121908171
rs121908171
RAB23
3 0.925 0.080 6 57194817 stop gained A/T snv 2.8E-04 3.6E-04 0.700 1.000 6 1985 2014
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623
FBN1
4 0.882 0.120 15 48460258 missense variant C/T snv 0.700 1.000 29 1986 2016
dbSNP: rs1553521389
rs1553521389
CUL3
3 1.000 2 224503679 frameshift variant AG/- delins 0.700 1.000 25 1986 2016
dbSNP: rs753670589
rs753670589
IQCE
1 7 2593110 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 12 1986 2017