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rs750053946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs750053946(C;C)
Make rs750053946(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position63951891
GeneSCN4A
is asnp
is mentioned by
dbSNPrs750053946
dbSNP (classic)rs750053946
ClinGenrs750053946
ebirs750053946
HLIrs750053946
Exacrs750053946
Gnomadrs750053946
Varsomers750053946
LitVarrs750053946
Maprs750053946
PheGenIrs750053946
Biobankrs750053946
1000 genomesrs750053946
hgdprs750053946
ensemblrs750053946
geneviewrs750053946
scholarrs750053946
googlers750053946
pharmgkbrs750053946
gwascentralrs750053946
openSNPrs750053946
23andMers750053946
SNPshotrs750053946
SNPdbers750053946
MSV3drs750053946
GWAS Ctlgrs750053946
Max Magnitude0
ClinVar
Risk rs750053946(A;A) rs750053946(C;C)
Alt rs750053946(A;A) rs750053946(C;C)
Reference Rs750053946(G;G)
Significance Probable-Pathogenic
Disease not specified not provided
Variation info
Gene SCN4A
CLNDBN not specified not provided
Reversed 0
HGVS NC_000017.10:g.62029251G>A; NC_000017.10:g.62029251G>C
CLNSRC
CLNACC RCV000440073.1, RCV000435175.1,