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rs1057519646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519646(A;A)
Make rs1057519646(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position2667011
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs1057519646
dbSNP (old)rs1057519646
ClinGenrs1057519646
ebirs1057519646
HLIrs1057519646
Exacrs1057519646
Gnomadrs1057519646
Varsomers1057519646
Maprs1057519646
PheGenIrs1057519646
Biobankrs1057519646
1000 genomesrs1057519646
hgdprs1057519646
ensemblrs1057519646
gopubmedrs1057519646
geneviewrs1057519646
scholarrs1057519646
googlers1057519646
pharmgkbrs1057519646
gwascentralrs1057519646
openSNPrs1057519646
23andMers1057519646
23andMe allrs1057519646
SNPshotrs1057519646
SNPdbers1057519646
MSV3drs1057519646
GWAS Ctlgrs1057519646
Max Magnitude0
ClinVar
Risk rs1057519646(A;A) rs1057519646(T;T)
Alt rs1057519646(A;A) rs1057519646(T;T)
Reference Rs1057519646(G;G)
Significance Pathogenic
Disease Arhinia choanal atresia microphthalmia
Variation info
Gene SMCHD1
CLNDBN Arhinia choanal atresia microphthalmia
Reversed 0
HGVS NC_000018.9:g.2667010G>A; NC_000018.9:g.2667010G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000417284.1, RCV000417347.1,