Source: CURATED

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: rs281865484
rs281865484
TGFB1
1.000 0.080 19 41348306 missense variant C/G;T snv 4.0E-06
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.710 1.000 0 2017 2017