rs201868115, LIPH

N. diseases: 3
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.
WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS
CUI: C3148823
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS
4 0.882 0.080 3 185519286 missense variant G/T snv 9.5E-05 2.8E-05 0.700 0
Woolly Hair, Autosomal Recessive
CUI: C3502073
Disease: Woolly Hair, Autosomal Recessive
2 0.882 0.080 3 185519286 missense variant G/T snv 9.5E-05 2.8E-05 0.040 1.000 4 2011 2014
Alopecia
CUI: C0002170
Disease: Alopecia
375 0.882 0.080 3 185519286 missense variant G/T snv 9.5E-05 2.8E-05 0.010 1.000 1 2014 2014