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rs1057519643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519643(A;C)
Make rs1057519643(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position2667015
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs1057519643
dbSNP (old)rs1057519643
ClinGenrs1057519643
ebirs1057519643
HLIrs1057519643
Exacrs1057519643
Gnomadrs1057519643
Varsomers1057519643
Maprs1057519643
PheGenIrs1057519643
Biobankrs1057519643
1000 genomesrs1057519643
hgdprs1057519643
ensemblrs1057519643
gopubmedrs1057519643
geneviewrs1057519643
scholarrs1057519643
googlers1057519643
pharmgkbrs1057519643
gwascentralrs1057519643
openSNPrs1057519643
23andMers1057519643
23andMe allrs1057519643
SNPshotrs1057519643
SNPdbers1057519643
MSV3drs1057519643
GWAS Ctlgrs1057519643
Max Magnitude0
ClinVar
Risk rs1057519643(C;C)
Alt rs1057519643(C;C)
Reference Rs1057519643(A;A)
Significance Pathogenic
Disease Arhinia choanal atresia microphthalmia
Variation info
Gene SMCHD1
CLNDBN Arhinia choanal atresia microphthalmia
Reversed 0
HGVS NC_000018.9:g.2667014A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000417233.1,