Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691804
rs1131691804
FBN1
0.807 0.200 15 48463123 missense variant G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.010 1.000 1 2016 2016
dbSNP: rs1177684571
rs1177684571
EGF
1.000 0.080 4 109976199 missense variant G/C;T snv 4.0E-06
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.010 1.000 1 2019 2019
dbSNP: rs1323910952
rs1323910952
LTBP3
1.000 0.080 11 65546882 missense variant C/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.010 1.000 1 2019 2019
dbSNP: rs1554974135
rs1554974135
LTBP3
0.925 0.080 11 65547459 missense variant G/C snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.010 1.000 1 2016 2016