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rs1057518865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518865(A;A)
Make rs1057518865(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position63957443
GeneSCN4A
is asnp
is mentioned by
dbSNPrs1057518865
dbSNP (old)rs1057518865
ClinGenrs1057518865
ebirs1057518865
HLIrs1057518865
Exacrs1057518865
Gnomadrs1057518865
Varsomers1057518865
Maprs1057518865
PheGenIrs1057518865
Biobankrs1057518865
1000 genomesrs1057518865
hgdprs1057518865
ensemblrs1057518865
gopubmedrs1057518865
geneviewrs1057518865
scholarrs1057518865
googlers1057518865
pharmgkbrs1057518865
gwascentralrs1057518865
openSNPrs1057518865
23andMers1057518865
23andMe allrs1057518865
SNPshotrs1057518865
SNPdbers1057518865
MSV3drs1057518865
GWAS Ctlgrs1057518865
Max Magnitude0
ClinVar
Risk rs1057518865(A;A)
Alt rs1057518865(A;A)
Reference Rs1057518865(G;G)
Significance Pathogenic
Disease Handgrip myotonia Myotonia
Variation info
Gene SCN4A
CLNDBN Handgrip myotonia Myotonia
Reversed 1
HGVS NC_000017.10:g.62034803C>T
CLNSRC
CLNACC RCV000414860.1,