rs768323248, ALDH18A1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
3 0.925 0.080 10 95637357 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 1 2015 2015
Cutis Laxa, Autosomal Dominant
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
3 0.925 0.080 10 95637357 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2017 2017