Source: CURATED

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: rs267606990
rs267606990
PTPN11 ; RPL6
0.851 0.240 12 112419116 missense variant C/T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 17 2001 2017
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
0.851 0.240 12 112419116 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2003 2014
dbSNP: rs2233861
rs2233861
RPL6
12 112406194 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
0.851 0.240 12 112419116 missense variant C/T snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0