Gene: CCHCR1 ×
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: rs1576
rs1576
CCHCR1
1 1.000 0.040 6 31142614 missense variant G/A;C snv 4.0E-06; 0.28 0.710 1.000 2 2011 2019
dbSNP: rs1265112
rs1265112
CCHCR1
1 1.000 0.040 6 31150242 intron variant T/C snv 0.28 0.28 0.010 1.000 1 2011 2011
dbSNP: rs130067
rs130067
CCHCR1
4 0.851 0.200 6 31150734 missense variant T/G snv 0.23 0.21 0.010 1.000 1 2013 2013
dbSNP: rs130071
rs130071
CCHCR1
1 1.000 0.040 6 31148433 synonymous variant G/A snv 0.25 0.25 0.010 1.000 1 2011 2011
dbSNP: rs746647
rs746647
CCHCR1
1 1.000 0.040 6 31146405 intron variant A/G snv 0.28 0.010 1.000 1 2011 2011