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: rs1085308051
rs1085308051
PTEN
0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.700 0
dbSNP: rs1554893835
rs1554893835
PTEN
0.827 0.240 10 87894110 splice donor variant G/C;T snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.700 0