Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs759549373
rs759549373
DYNC2H1
0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 1.000 1 2016 2016
dbSNP: rs771487311
rs771487311
DYNC2H1
0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 1.000 1 2016 2016
dbSNP: rs1085308004
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs112550005
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs113812345
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs137854466
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs1555397413
rs1555397413
FBN1
0.732 0.280 15 48470705 missense variant T/C snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs1555398397
rs1555398397
FBN1
0.807 0.240 15 48485436 missense variant C/T snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs1566823361
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs397515789
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs587784105
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs761857514
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs863223722
rs863223722
SKI
1.000 0.160 1 2229305 missense variant C/A;T snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0