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: rs587778773
rs587778773
FGFR3
1 1.000 0.120 4 1801886 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs587778775
rs587778775
FGFR3
1 1.000 0.120 4 1803785 missense variant G/A;T snv 0.700 0
dbSNP: rs587778776
rs587778776
FGFR3
1 1.000 0.120 4 1804396 missense variant T/A;G snv 1.2E-05 0.700 0
dbSNP: rs587778801
rs587778801
FGFR3
1 1.000 0.120 4 1801518 synonymous variant C/T snv 0.700 0
dbSNP: rs587778811
rs587778811
FGFR3
1 1.000 0.120 4 1801896 synonymous variant G/T snv 0.700 0
dbSNP: rs587778816
rs587778816
FGFR3
1 1.000 0.120 4 1803731 missense variant C/A;G snv 0.700 0
dbSNP: rs587778817
rs587778817
FGFR3
1 1.000 0.120 4 1803744 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs615563
rs615563
PCSK9
2 1.000 0.120 1 55060623 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs747718232
rs747718232
FGFR2
3 1.000 0.120 10 121488017 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs7552841
rs7552841
PCSK9
3 0.925 0.160 1 55053079 intron variant C/T snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs757254917
rs757254917
FGFR1
1 1.000 0.120 8 38415967 missense variant T/A;G snv 4.0E-06; 1.2E-04 0.010 1.000 1 2000 2000
dbSNP: rs765658636
rs765658636
FGFR2
1 1.000 0.120 10 121498530 missense variant T/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs77722678
rs77722678
FGFR3
1 1.000 0.120 4 1805643 missense variant A/C;G snv 4.0E-06 0.710 1.000 1 2000 2000
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.710 1.000 1 2011 2011
dbSNP: rs80053154
rs80053154
FGFR3
2 0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06 0.730 1.000 3 1998 2017
dbSNP: rs869025672
rs869025672
FGFR1
2 0.925 0.320 8 38414872 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.010 1.000 1 2014 2014