Gene: CACNA1H ×
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: rs267606697
rs267606697
CACNA1H
3 0.925 0.040 16 1204325 missense variant G/A snv 2.4E-04 4.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs8044363
rs8044363
CACNA1H
3 0.925 0.040 16 1200559 synonymous variant T/A;C snv 0.37 0.010 1.000 1 2007 2007
dbSNP: rs9934839
rs9934839
CACNA1H
2 0.925 0.040 16 1202259 synonymous variant A/G snv 0.42 0.50 0.010 1.000 1 2007 2007