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: rs11553746
rs11553746
1.000 0.080 2 272203 missense variant C/T snv 0.31 0.28
CUI: C0028754
Disease: Obesity
Obesity
0.010 1.000 1 2018 2018
dbSNP: rs765467335
rs765467335
1.000 0.160 2 277247 missense variant G/T snv 1.2E-05
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.010 1.000 1 2008 2008
dbSNP: rs774121564
rs774121564
1.000 0.040 2 275197 missense variant C/G snv 4.1E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 1.000 1 2013 2013