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: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		0.700 0
dbSNP: rs61753219
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		0.700 0