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: rs606231407
rs606231407
FGF8 ; LOC105378457
2 1.000 0.040 10 101770613 missense variant C/T snv 1.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs876661330
rs876661330
FGF8 ; LOC105378457
3 0.882 0.160 10 101771522 stop gained G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs144292455
rs144292455
TACR3
3 0.882 0.040 4 103656258 stop gained C/T snv 3.1E-04 3.8E-04 0.010 1.000 1 2012 2012
dbSNP: rs727505375
rs727505375
TACR3
1 1.000 0.040 4 103658329 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs769742678
rs769742678
TACR3
1 1.000 0.040 4 103719502 synonymous variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs774526181
rs774526181
POLR3B
3 0.882 0.200 12 106427360 splice donor variant T/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs138249161
rs138249161
POLR3B
8 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs1445182466
rs1445182466
GPRC6A
1 1.000 0.040 6 116809366 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs199538589
rs199538589
HS6ST1
2 0.925 0.040 2 128268254 missense variant G/A snv 1.9E-03 9.3E-04 0.700 0
dbSNP: rs121918340
rs121918340
NSMF ; MIR7114
2 0.925 0.040 9 137449656 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1363196459
rs1363196459
EDNRA
3 0.882 0.040 4 147486001 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1224900173
rs1224900173
EDNRA
1 1.000 0.040 4 147519933 missense variant C/T snv 4.0E-06 0.030 1.000 3 2003 2008
dbSNP: rs970697573
rs970697573
LPAR2
3 0.882 0.040 19 19626965 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1359519711
rs1359519711
MAPK3
1 1.000 0.040 16 30117672 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs886039799
rs886039799
BBS9
17 0.763 0.320 7 33273896 frameshift variant C/- del 0.700 0
dbSNP: rs781328162
rs781328162
FGFR1
2 0.925 0.160 8 38413714 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs727505377
rs727505377
FGFR1
1 1.000 0.040 8 38414001 missense variant A/G snv 0.700 0
dbSNP: rs727505376
rs727505376
FGFR1
2 0.925 0.160 8 38414279 missense variant C/G;T snv 0.700 0
dbSNP: rs727505370
rs727505370
FGFR1
2 1.000 0.040 8 38414840 missense variant A/G snv 0.700 0
dbSNP: rs121909628
rs121909628
FGFR1
3 0.925 0.160 8 38414892 stop gained G/A;C snv 0.700 0
dbSNP: rs515726224
rs515726224
FGFR1
3 0.925 0.320 8 38417962 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs121909641
rs121909641
FGFR1
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0
dbSNP: rs727505371
rs727505371
FGFR1
2 1.000 0.040 8 38421840 frameshift variant AG/- delins 4.0E-06 0.700 0
dbSNP: rs1064793123
rs1064793123
FGFR1
1 1.000 0.040 8 38421859 missense variant G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs727505369
rs727505369
FGFR1
3 0.925 0.160 8 38424624 missense variant T/C snv 0.700 0