Source: CLINVAR

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: rs104893646
rs104893646
1.000 0.320 2 15945880 missense variant G/A snv
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.800 1.000 1 2005 2008
dbSNP: rs104893648
rs104893648
0.882 0.320 2 15945883 missense variant G/A;T snv
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.800 1.000 1 2005 2008
dbSNP: rs104893647
rs104893647
1.000 0.320 2 15945879 missense variant C/A snv
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.800 1.000 0 2005 2006
dbSNP: rs759103701
rs759103701
0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.700 1.000 2 2005 2008
dbSNP: rs1057519919
rs1057519919
0.851 0.160 2 15942195 missense variant C/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919
0.851 0.160 2 15942195 missense variant C/T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919
0.851 0.160 2 15942195 missense variant C/T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919
0.851 0.160 2 15942195 missense variant C/T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919
0.851 0.160 2 15942195 missense variant C/T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 1.000 1 2016 2016
dbSNP: rs754137452
rs754137452
1.000 0.320 2 15945819 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.700 1.000 1 2008 2008
dbSNP: rs759103701
rs759103701
0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger
0.700 1.000 1 2005 2005
dbSNP: rs759103701
rs759103701
0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06
Esophageal atresia with or without tracheoesophageal fistula
0.700 1.000 1 2005 2005
dbSNP: rs759103701
rs759103701
0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
0.700 1.000 1 2005 2005
dbSNP: rs104893648
rs104893648
0.882 0.320 2 15945883 missense variant G/A;T snv
Esophageal atresia with or without tracheoesophageal fistula
0.700 0
dbSNP: rs104893648
rs104893648
0.882 0.320 2 15945883 missense variant G/A;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs104893648
rs104893648
0.882 0.320 2 15945883 missense variant G/A;T snv
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia
0.700 0
dbSNP: rs113994115
rs113994115
1.000 0.320 2 15942281 stop gained G/T snv
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.700 0
dbSNP: rs121913666
rs121913666
1.000 0.320 2 15945847 missense variant G/A snv
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.700 0
dbSNP: rs121913667
rs121913667
1.000 0.320 2 15942295 stop gained G/A snv
Oculodigitoesophagoduodenal syndrome
0.700 0
dbSNP: rs1553370260
rs1553370260
0.925 0.320 2 15942129 frameshift variant -/CGCT delins
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia
0.700 0
dbSNP: rs1553370260
rs1553370260
0.925 0.320 2 15942129 frameshift variant -/CGCT delins
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle
0.700 0
dbSNP: rs1553370260
rs1553370260
0.925 0.320 2 15942129 frameshift variant -/CGCT delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs1553370260
rs1553370260
0.925 0.320 2 15942129 frameshift variant -/CGCT delins
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.700 0
dbSNP: rs1553370918
rs1553370918
0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs1553370918
rs1553370918
0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.700 0