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: rs720465
rs720465
TCF19 ; CCHCR1
4 1.000 6 31158000 splice region variant C/A snv 0.29 0.700 1.000 2 2009 2010
dbSNP: rs1265115
rs1265115
CCHCR1
5 0.925 0.080 6 31149298 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs130072
rs130072
CCHCR1
4 1.000 6 31144707 missense variant C/T snv 0.10 8.4E-02 0.700 1.000 1 2010 2010
dbSNP: rs3094187
rs3094187
TCF19 ; CCHCR1
5 0.925 0.120 6 31159167 5 prime UTR variant C/T snv 0.55 0.700 1.000 1 2009 2009
dbSNP: rs3130453
rs3130453
TCF19 ; CCHCR1
4 1.000 6 31157072 stop gained C/T snv 0.47 0.48 0.700 1.000 1 2010 2010