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rs1057519644

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519644(A;A)
Make rs1057519644(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position2667017
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs1057519644
dbSNP (old)rs1057519644
ClinGenrs1057519644
ebirs1057519644
HLIrs1057519644
Exacrs1057519644
Gnomadrs1057519644
Varsomers1057519644
Maprs1057519644
PheGenIrs1057519644
Biobankrs1057519644
1000 genomesrs1057519644
hgdprs1057519644
ensemblrs1057519644
gopubmedrs1057519644
geneviewrs1057519644
scholarrs1057519644
googlers1057519644
pharmgkbrs1057519644
gwascentralrs1057519644
openSNPrs1057519644
23andMers1057519644
23andMe allrs1057519644
SNPshotrs1057519644
SNPdbers1057519644
MSV3drs1057519644
GWAS Ctlgrs1057519644
Max Magnitude0
ClinVar
Risk rs1057519644(A;A)
Alt rs1057519644(A;A)
Reference Rs1057519644(G;G)
Significance Pathogenic
Disease Arhinia choanal atresia microphthalmia Facioscapulohumeral muscular dystrophy 2
Variation info
Gene SMCHD1
CLNDBN Arhinia choanal atresia microphthalmia Facioscapulohumeral muscular dystrophy 2
Reversed 0
HGVS NC_000018.9:g.2667016G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000417296.1, RCV000417337.1,