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: rs397514589
rs397514589
SKI
1.000 0.160 1 2228870 missense variant C/A;G snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.800 1.000 4 2012 2015
dbSNP: rs397514590
rs397514590
SKI
1.000 0.160 1 2228869 missense variant C/T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.800 1.000 4 2012 2015
dbSNP: rs869312901
rs869312901
SKI
1.000 0.160 1 2229115 missense variant G/C snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.800 0
dbSNP: rs387907306
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2005 2016
dbSNP: rs387907306
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2005 2016
dbSNP: rs387907306
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2005 2016
dbSNP: rs387907306
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.700 1.000 3 2012 2015
dbSNP: rs1553189986
rs1553189986
SKI
1.000 0.160 1 2229402 inframe deletion TCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGC/- delins
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.700 1.000 2 2002 2003
dbSNP: rs11576356
rs11576356
SKI
1 2302522 intron variant G/A snv 0.14
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1692580
rs1692580
SKI
1.000 0.040 1 2226509 upstream gene variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
dbSNP: rs260508
rs260508
SKI
1 2255646 intron variant T/A;C;G snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs377599
rs377599
SKI
1 2233260 intron variant C/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4648819
rs4648819
SKI
1 2273351 intron variant G/A snv 0.91
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2018 2018
dbSNP: rs61776614
rs61776614
SKI
1 2234967 intron variant C/A;T snv
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs76154380
rs76154380
SKI
1 2253199 intron variant C/A;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs76875252
rs76875252
SKI
1 2235370 intron variant C/T snv 0.14
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs76875252
rs76875252
SKI
1 2235370 intron variant C/T snv 0.14
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs1557806222
rs1557806222
SKI
1.000 0.160 1 2228834 missense variant A/C snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.700 0
dbSNP: rs387907303
rs387907303
SKI
1.000 0.160 1 2229113 missense variant G/A snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.700 0
dbSNP: rs387907304
rs387907304
SKI
1.000 0.160 1 2228860 missense variant C/G;T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.700 0
dbSNP: rs387907305
rs387907305
SKI
1.000 0.160 1 2228867 missense variant G/A;T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.700 0
dbSNP: rs398122889
rs398122889
SKI
1.000 0.160 1 2229046 inframe deletion GACCGCTCC/- delins
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.700 0
dbSNP: rs398122914
rs398122914
SKI
1.000 0.160 1 2229046 inframe deletion TCCGACCGCTCC/- del
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		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
dbSNP: rs863223722
rs863223722
SKI
1.000 0.160 1 2229305 missense variant C/A;T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.700 0