rs387906624, FBN1

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.
Acromicric Dysplasia
CUI: C0265287
Disease: Acromicric Dysplasia
31 0.925 0.080 15 48463124 missense variant C/T snv 0.700 0
GELEOPHYSIC DYSPLASIA 2
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
27 0.925 0.080 15 48463124 missense variant C/T snv 0.700 0