Gene: MCCC2 ×
Source: INFERRED ×
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: rs150591260
rs150591260
MCCC2
1 1.000 0.120 5 71641018 missense variant G/A;C snv 7.8E-04; 4.0E-06 5.7E-04 0.800 1.000 6 2001 2016
dbSNP: rs119103226
rs119103226
MCCC2
1 1.000 0.120 5 71634977 missense variant G/T snv 5.6E-05 7.0E-06 0.800 1.000 4 2001 2016
dbSNP: rs141030969
rs141030969
MCCC2
1 1.000 0.120 5 71602585 missense variant C/T snv 4.4E-05 2.1E-05 0.800 1.000 2 2005 2012
dbSNP: rs148773718
rs148773718
MCCC2
1 1.000 0.120 5 71650118 missense variant G/A snv 9.5E-05 1.5E-04 0.800 1.000 2 2001 2016
dbSNP: rs757052602
rs757052602
MCCC2
1 1.000 0.120 5 71641068 missense variant A/T snv 3.6E-04 1.1E-04 0.800 1.000 2 2011 2015
dbSNP: rs766753795
rs766753795
MCCC2
1 1.000 0.120 5 71626703 missense variant A/G snv 0.800 1.000 1 2016 2016
dbSNP: rs773774134
rs773774134
MCCC2
1 1.000 0.120 5 71604412 missense variant C/T snv 1.6E-05 2.1E-05 0.800 1.000 1 2005 2005
dbSNP: rs119103219
rs119103219
MCCC2
1 1.000 0.120 5 71599672 missense variant G/A;C snv 3.6E-05 1.4E-04 0.800 0
dbSNP: rs1554138265
rs1554138265
MCCC2
1 1.000 0.120 5 71646279 splice donor variant T/C snv 0.700 1.000 3 2001 2016
dbSNP: rs587776533
rs587776533
MCCC2
1 1.000 0.120 5 71604359 frameshift variant -/T delins 0.700 1.000 1 2001 2001
dbSNP: rs1554137532
rs1554137532
MCCC2
1 1.000 0.120 5 71635231 frameshift variant -/T delins 0.700 0
dbSNP: rs770769655
rs770769655
MCCC2
1 1.000 0.120 5 71626744 frameshift variant -/C delins 0.700 0