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rs139228801

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139228801(A;A)
Make rs139228801(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position115705208
GeneCASQ2
is asnp
is mentioned by
dbSNPrs139228801
ebirs139228801
HLIrs139228801
Exacrs139228801
Varsomers139228801
Maprs139228801
PheGenIrs139228801
hapmaprs139228801
1000 genomesrs139228801
hgdprs139228801
ensemblrs139228801
gopubmedrs139228801
geneviewrs139228801
scholarrs139228801
googlers139228801
pharmgkbrs139228801
gwascentralrs139228801
openSNPrs139228801
23andMers139228801
23andMe allrs139228801
SNP Nexus

SNPshotrs139228801
SNPdbers139228801
MSV3drs139228801
GWAS Ctlgrs139228801
Max Magnitude0
ClinVar
Risk rs139228801(A,T;A,T)
Alt rs139228801(A,T;A,T)
Reference rs139228801(G;G)
Significance Pathogenic
Disease not provided not specified
Variation info
Gene CASQ2
CLNDBN not provided not specified
Reversed 0
HGVS NC_000001.10:g.116247829G>A; NC_000001.10:g.116247829G>T
CLNSRC
CLNACC RCV000170910.2, RCV000150221.1,