Gene: CDHR1 ×
Source: CLINVAR ×
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: rs147346345
rs147346345
CDHR1
1 1.000 0.040 10 84203123 splice region variant G/A;C;T snv 2.9E-03; 4.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs756678484
rs756678484
CDHR1
2 1.000 10 84211139 frameshift variant G/- delins 6.0E-05 0.700 1.000 1 2010 2010
dbSNP: rs1554857529
rs1554857529
CDHR1
1 10 84211128 missense variant A/G snv 0.700 0
dbSNP: rs878853347
rs878853347
CDHR1
1 10 84196622 frameshift variant -/C delins 0.700 0