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: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.700 0
dbSNP: rs587782995
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0239137
Disease: Coxa valga
Coxa valga 		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: C0239137
Disease: Coxa valga
Coxa valga 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.700 0
dbSNP: rs886039900
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.700 0