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: rs118203993
rs118203993
ORAI1
2 0.925 0.120 12 121627018 missense variant C/T snv 0.800 1.000 2 2005 2006
dbSNP: rs1555322558
rs1555322558
ORAI1
1 1.000 0.120 12 121626888 frameshift variant -/CCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC ins 0.700 0
dbSNP: rs782753385
rs782753385
ORAI1
1 1.000 0.120 12 121641318 missense variant T/C snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs786205890
rs786205890
ORAI1
1 1.000 0.120 12 121641045 missense variant C/A snv 0.700 0
dbSNP: rs878853261
rs878853261
ORAI1
1 1.000 0.120 12 121627005 frameshift variant -/A delins 0.700 0