Source: UNIPROT

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: rs121909238
rs121909238
PTEN
0.925 0.240 10 87933037 missense variant A/C;G snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015
dbSNP: rs121909239
rs121909239
PTEN
0.925 0.240 10 87957973 missense variant A/G;T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015
dbSNP: rs121909240
rs121909240
PTEN
0.925 0.240 10 87957940 missense variant T/C snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015
dbSNP: rs397514559
rs397514559
PTEN
0.925 0.240 10 87952125 missense variant C/A snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015
dbSNP: rs397514560
rs397514560
PTEN
0.925 0.240 10 87933151 missense variant C/G;T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015