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: rs727503786
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 0
dbSNP: rs727503786
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		0.700 0
dbSNP: rs727503786
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.700 0
dbSNP: rs727503786
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs727503786
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs727503786
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.700 0