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: rs11655081
rs11655081
ARSG
7 0.851 0.080 17 68386068 intron variant T/C snv 0.18 0.710 1.000 1 2014 2014
dbSNP: rs143888944
rs143888944
RAB12
2 1.000 0.040 18 8636322 missense variant A/G snv 3.3E-04 4.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs146556082
rs146556082
TFRC
1 1.000 0.040 3 196064339 missense variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs149427020
rs149427020
RAB12
2 1.000 0.040 18 8636256 missense variant G/A snv 4.5E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs371288995
rs371288995
RAB12
2 1.000 0.040 18 8636278 missense variant G/A snv 5.6E-05 4.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs533268185
rs533268185
TFRC
2 1.000 0.040 3 196068103 missense variant T/C snv 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs769617030
rs769617030
AGFG1
2 1.000 0.040 2 227491553 synonymous variant A/T snv 4.9E-06 0.010 1.000 1 2017 2017
dbSNP: rs770304347
rs770304347
TFRC
2 1.000 0.040 3 196062895 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017