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rs768144106

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs768144106(A;A)
Make rs768144106(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position229432426
GeneACTA1
is asnp
is mentioned by
dbSNPrs768144106
ebirs768144106
HLIrs768144106
Exacrs768144106
Varsomers768144106
Maprs768144106
PheGenIrs768144106
hapmaprs768144106
1000 genomesrs768144106
hgdprs768144106
ensemblrs768144106
gopubmedrs768144106
geneviewrs768144106
scholarrs768144106
googlers768144106
pharmgkbrs768144106
gwascentralrs768144106
openSNPrs768144106
23andMers768144106
23andMe allrs768144106
SNP Nexus

SNPshotrs768144106
SNPdbers768144106
MSV3drs768144106
GWAS Ctlgrs768144106
Max Magnitude0
ClinVar
Risk rs768144106(A;A)
Alt rs768144106(A;A)
Reference rs768144106(C;C)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy with rigid spine
Variation info
Gene ACTA1
CLNDBN Congenital muscular dystrophy with rigid spine
Reversed 0
HGVS NC_000001.10:g.229568173C>G
CLNSRC
CLNACC RCV000230128.1,