FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Long narrow head ×
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: rs1057518812
rs1057518812 		0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1232880706
rs1232880706 		0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1555398673
rs1555398673 		0.807 0.200 15 48488433 missense variant A/G snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1566911709
rs1566911709 		0.742 0.240 15 48495502 frameshift variant T/- delins
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0