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: rs759103701
rs759103701
MYCN
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: rs759103701
rs759103701
MYCN
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
MYCN
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: rs759103701
rs759103701
MYCN
0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		0.700 1.000 1 2005 2005