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rs3751664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs3751664(C;T)
Make rs3751664(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1204369
GeneCACNA1H
is asnp
is mentioned by
dbSNPrs3751664
ebirs3751664
HLIrs3751664
Exacrs3751664
Varsomers3751664
Maprs3751664
PheGenIrs3751664
hapmaprs3751664
1000 genomesrs3751664
hgdprs3751664
ensemblrs3751664
gopubmedrs3751664
geneviewrs3751664
scholarrs3751664
googlers3751664
pharmgkbrs3751664
gwascentralrs3751664
openSNPrs3751664
23andMers3751664
23andMe allrs3751664
SNP Nexus

SNPshotrs3751664
SNPdbers3751664
MSV3drs3751664
GWAS Ctlgrs3751664
GMAF0.06933
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM607904
Desc
Variant0004
Relatedalso
[PMID 19609347OA-icon.png] A genome-wide association study of hypertension and blood pressure in African Americans.


GET Evidence
CACNA1H-R788C
aa_change Arg788Cys
aa_change_short R788C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.07185
summary



ClinVar
Risk rs3751664(A,T;A,T)
Alt rs3751664(A,T;A,T)
Reference rs3751664(C;C)
Significance Other
Disease Epilepsy not specified
Variation info
Gene CACNA1H
CLNDBN Epilepsy, childhood absence 6 not specified
Reversed 0
HGVS NC_000016.9:g.1254369C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002823.2, RCV000082068.4,