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rs1057519614

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519614(-;-)
Make rs1057519614(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position2700879
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs1057519614
dbSNP (old)rs1057519614
ClinGenrs1057519614
ebirs1057519614
HLIrs1057519614
Exacrs1057519614
Gnomadrs1057519614
Varsomers1057519614
Maprs1057519614
PheGenIrs1057519614
Biobankrs1057519614
1000 genomesrs1057519614
hgdprs1057519614
ensemblrs1057519614
gopubmedrs1057519614
geneviewrs1057519614
scholarrs1057519614
googlers1057519614
pharmgkbrs1057519614
gwascentralrs1057519614
openSNPrs1057519614
23andMers1057519614
23andMe allrs1057519614
SNPshotrs1057519614
SNPdbers1057519614
MSV3drs1057519614
GWAS Ctlgrs1057519614
Max Magnitude0
ClinVar
Risk rs1057519614(-;-)
Alt rs1057519614(-;-)
Reference Rs1057519614(A;A)
Significance Pathogenic
Disease Facioscapulohumeral muscular dystrophy 2
Variation info
Gene SMCHD1
CLNDBN Facioscapulohumeral muscular dystrophy 2
Reversed 0
HGVS NC_000018.9:g.2700877delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000033084.4,