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: rs1015798796
rs1015798796
SLC2A10
3 0.882 0.160 20 46725684 stop gained C/G snv 1.4E-05 0.700 0
dbSNP: rs104893809
rs104893809
TGFBR2
3 0.882 0.120 3 30691504 missense variant C/T snv 0.700 0
dbSNP: rs1057518977
rs1057518977
SMAD3
1 1.000 0.040 15 67164969 missense variant G/T snv 0.700 0
dbSNP: rs121912923
rs121912923
COL3A1
3 0.882 0.160 2 188996479 missense variant G/A;C;T snv 0.700 0
dbSNP: rs1396171148
rs1396171148
FARSB
5 0.851 0.200 2 222613892 missense variant T/G snv 0.700 0
dbSNP: rs1419129874
rs1419129874
FARSB
5 0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1466642025
rs1466642025
FARSB
5 0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1553507180
rs1553507180
COL3A1
2 0.925 0.040 2 188988083 frameshift variant C/- delins 0.700 0
dbSNP: rs1553507867
rs1553507867
COL3A1 ; MIR3606
2 0.925 0.040 2 188994066 missense variant G/A snv 0.700 0
dbSNP: rs1553517181
rs1553517181
COL5A2
2 0.925 0.040 2 189084028 missense variant C/T snv 0.700 0
dbSNP: rs1553553086
rs1553553086
FARSB
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
dbSNP: rs1553554543
rs1553554543
FARSB
5 0.851 0.200 2 222631606 missense variant T/C snv 0.700 0
dbSNP: rs1553808296
rs1553808296
MYLK ; LOC105369194
2 0.925 0.040 3 123707752 splice donor variant A/G snv 0.700 0
dbSNP: rs1554799402
rs1554799402
COL5A1
2 0.925 0.040 9 134785008 missense variant G/C snv 0.700 0
dbSNP: rs1555393516
rs1555393516
FBN1
2 0.925 0.040 15 48411101 frameshift variant -/G delins 0.700 0
dbSNP: rs1555393856
rs1555393856
FBN1
2 0.925 0.040 15 48415631 stop gained A/T snv 0.700 0
dbSNP: rs1555394142
rs1555394142
FBN1
2 0.925 0.040 15 48420718 stop gained G/T snv 0.700 0
dbSNP: rs1555395209
rs1555395209
FBN1
3 0.882 0.160 15 48437054 frameshift variant -/G delins 0.700 0
dbSNP: rs1555395742
rs1555395742
FBN1
3 0.882 0.160 15 48445370 splice region variant A/G snv 0.700 0
dbSNP: rs1555396638
rs1555396638
FBN1
3 0.882 0.160 15 48460305 frameshift variant -/TA delins 0.700 0
dbSNP: rs1555399387
rs1555399387
FBN1
2 0.925 0.040 15 48497392 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555459260
rs1555459260
MYH11
2 0.925 0.040 16 15838252 start lost T/C snv 0.700 0
dbSNP: rs1555619056
rs1555619056
NF1
3 0.925 0.160 17 31261858 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1557175789
rs1557175789
FLNA
3 1.000 0.040 X 154351577 splice region variant T/A snv 0.700 0
dbSNP: rs193922153
rs193922153
COL1A1
2 0.925 0.040 17 50189173 missense variant G/A snv 1.5E-04 1.8E-04 0.700 0