Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1114167429
rs1114167429 		1.000 2 28776964 missense variant G/C snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 1.000 5 2016 2019
dbSNP: rs886037952
rs886037952 		0.925 0.240 2 28776944 missense variant C/G snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 1.000 5 2016 2019
dbSNP: rs886037954
rs886037954 		1.000 2 28783934 missense variant A/C;T snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 1.000 5 2016 2019
dbSNP: rs886037955
rs886037955 		1.000 2 28793938 missense variant G/A snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 1.000 5 2016 2019
dbSNP: rs886037953
rs886037953 		1.000 2 28793872 missense variant G/T snv
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.700 1.000 5 2016 2019