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rs149998588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149998588(C;T)
Make rs149998588(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52479759
GeneEFHC1
is asnp
is mentioned by
dbSNPrs149998588
dbSNP (classic)rs149998588
ClinGenrs149998588
ebirs149998588
HLIrs149998588
Exacrs149998588
Gnomadrs149998588
Varsomers149998588
LitVarrs149998588
Maprs149998588
PheGenIrs149998588
Biobankrs149998588
1000 genomesrs149998588
hgdprs149998588
ensemblrs149998588
geneviewrs149998588
scholarrs149998588
googlers149998588
pharmgkbrs149998588
gwascentralrs149998588
openSNPrs149998588
23andMers149998588
SNPshotrs149998588
SNPdbers149998588
MSV3drs149998588
GWAS Ctlgrs149998588
Max Magnitude0
ClinVar
Risk rs149998588(T;T)
Alt rs149998588(T;T)
Reference Rs149998588(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene EFHC1
CLNDBN not provided
Reversed 0
HGVS NC_000006.11:g.52344557C>T
CLNSRC
CLNACC RCV000187372.1,