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: rs745410279
rs745410279
IGF1
0.925 0.200 12 102478498 missense variant T/C snv 4.1E-06
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.030 1.000 3 2012 2015
dbSNP: rs745410279
rs745410279
IGF1
0.925 0.200 12 102478498 missense variant T/C snv 4.1E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 1.000 1 2012 2012