ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Disease: ACHROMATOPSIA 7 ×
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: rs761357250
rs761357250 		0.925 0.120 1 161819693 missense variant C/T snv 1.6E-05 5.6E-05
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.800 1.000 2 2015 2015
dbSNP: rs761129859
rs761129859 		0.925 0.120 1 161821166 splice region variant G/A;C snv 4.3E-06
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs796065053
rs796065053 		0.925 0.120 1 161863292 missense variant T/A snv
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs797045170
rs797045170 		0.925 0.120 1 161766447 splice region variant G/A;T snv 4.0E-06
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs797045171
rs797045171 		0.925 0.120 1 161784094 frameshift variant C/- delins
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs797045172
rs797045172 		0.925 0.120 1 161853324 splice donor variant G/C snv 4.0E-06
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs797045173
rs797045173 		0.925 0.120 1 161802157 frameshift variant -/C delins
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs797045174
rs797045174 		0.925 0.120 1 161821081 frameshift variant -/A delins
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 1.000 1 2015 2015
dbSNP: rs1558022158
rs1558022158 		1.000 1 161912359 frameshift variant T/- delins
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 0
dbSNP: rs869320751
rs869320751 		1.000 1 161791406 splice region variant -/G delins
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 0