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: rs869320625
rs869320625
EMC1
1 1.000 1 19243991 missense variant G/A snv 1.6E-05 0.800 0
dbSNP: rs879253819
rs879253819
EMC1 ; EMC1-AS1
1 1.000 1 19235151 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 0
dbSNP: rs869320626
rs869320626
EMC1 ; EMC1-AS1
1 1.000 1 19220834 missense variant C/T snv 0.700 0