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: rs773379832
rs773379832
SETX
0.925 0.320 9 132297011 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2013 2013
dbSNP: rs9886152
rs9886152
TMEM196 ; LOC107986774
1.000 0.200 7 19729117 intron variant C/T snv 0.18
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 1.000 1 2019 2019