Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs878853270
rs878853270
RERE
1 1.000 1 8358750 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1064793252
rs1064793252
RERE
1 1.000 1 8358216 protein altering variant -/AGGTGG delins 0.700 0
dbSNP: rs1321809020
rs1321809020
RERE
1 1.000 1 8358216 missense variant T/C snv 0.700 0
dbSNP: rs1553154130
rs1553154130
RERE
18 0.807 0.280 1 8358231 missense variant T/A;C snv 0.700 0
dbSNP: rs1557461427
rs1557461427
RERE
1 1.000 1 8656049 frameshift variant -/T delins 0.700 0
dbSNP: rs1557582259
rs1557582259
RERE
1 1.000 1 8358232 missense variant G/A snv 0.700 0
dbSNP: rs1557582271
rs1557582271
RERE
1 1.000 1 8358235 missense variant A/G snv 0.700 0
dbSNP: rs765016528
rs765016528
RERE
1 1.000 1 8365848 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs869312871
rs869312871
RERE
1 1.000 1 8358242 missense variant G/T snv 0.700 0
dbSNP: rs878853011
rs878853011
RERE
1 1.000 1 8360361 missense variant G/A snv 0.700 0
dbSNP: rs878853252
rs878853252
RERE
1 1.000 1 8361236 frameshift variant -/CTGGAGGAGCTGAGGAGGGAGC delins 0.700 0