FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Tall stature ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518881
rs1057518881 		0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs1057518883
rs1057518883 		0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs1057518909
rs1057518909 		0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs727503054
rs727503054 		0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0