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rs387907319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATATG;ATATG) 0 common in clinvar
(TGATA;TGATA) 0 common in clinvar
Make rs387907319(-;-)
Make rs387907319(-;TGATA)
ReferenceGRCh38 38.1/141
Chromosome18
Position2698001
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs387907319
ebirs387907319
HLIrs387907319
Exacrs387907319
Varsomers387907319
Maprs387907319
PheGenIrs387907319
hapmaprs387907319
1000 genomesrs387907319
hgdprs387907319
ensemblrs387907319
gopubmedrs387907319
geneviewrs387907319
scholarrs387907319
googlers387907319
pharmgkbrs387907319
gwascentralrs387907319
openSNPrs387907319
23andMers387907319
23andMe allrs387907319
SNP Nexus

SNPshotrs387907319
SNPdbers387907319
MSV3drs387907319
GWAS Ctlgrs387907319
Max Magnitude0
ClinVar
Risk rs387907319(;)
Alt rs387907319(;)
Reference rs387907319(ATATG;ATATG)
Significance Pathogenic
Disease Facioscapulohumeral muscular dystrophy 2
Variation info
Gene SMCHD1
CLNDBN Facioscapulohumeral muscular dystrophy 2
Reversed 0
HGVS NC_000018.9:g.2697999_2698003delTGATA
CLNSRC OMIM Allelic Variant
CLNACC RCV000033082.4,