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: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1481733213
rs1481733213
ATR
5 0.851 0.240 3 142568059 splice region variant T/C snv 0.700 0
dbSNP: rs1553761113
rs1553761113
ATR
5 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
dbSNP: rs1566902569
rs1566902569
FBN1
9 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
dbSNP: rs397514487
rs397514487
POC1A
3 0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs587777614
rs587777614
DNA2
3 0.882 0.160 10 68416703 frameshift variant G/- delins 0.700 0
dbSNP: rs587779348
rs587779348
CRIPT
3 0.882 0.160 2 46623765 frameshift variant T/- delins 0.700 0
dbSNP: rs587779356
rs587779356
CRIPT
3 0.882 0.160 2 46619676 frameshift variant -/GG delins 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs137853221
rs137853221
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.160 17 63917803 missense variant T/C snv 0.010 1.000 1 1997 1997
dbSNP: rs577421663
rs577421663
GHR
1 1.000 0.120 5 42695051 missense variant G/A snv 2.0E-05 9.8E-05 0.010 1.000 1 1997 1997
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.020 0.500 2 1998 1998
dbSNP: rs1211533350
rs1211533350
FGFR3
5 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs80053154
rs80053154
FGFR3
2 0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs122460151
rs122460151
ARSL
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs756254503
rs756254503
SPARC
2 0.925 0.120 5 151669740 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs587781858
rs587781858
TP53
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs121913479
rs121913479
FGFR3
10 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 1999 2002
dbSNP: rs1179060441
rs1179060441
GHR
1 1.000 0.120 5 42694934 missense variant C/T snv 8.1E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs75028043
rs75028043
GHR
1 1.000 0.120 5 42688959 missense variant C/T snv 2.1E-04 2.1E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs121917843
rs121917843
PROP1
3 0.882 0.160 5 177994231 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs2076738
rs2076738
TG
6 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs2076739
rs2076739
TG
5 0.827 0.200 8 132971804 missense variant T/A snv 0.010 1.000 1 2004 2004
dbSNP: rs137853222
rs137853222
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.160 17 63918072 missense variant C/A;G snv 0.010 1.000 1 2005 2005