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rs1057519639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519639(A;G)
Make rs1057519639(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position2694687
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs1057519639
dbSNP (old)rs1057519639
ClinGenrs1057519639
ebirs1057519639
HLIrs1057519639
Exacrs1057519639
Gnomadrs1057519639
Varsomers1057519639
Maprs1057519639
PheGenIrs1057519639
Biobankrs1057519639
1000 genomesrs1057519639
hgdprs1057519639
ensemblrs1057519639
gopubmedrs1057519639
geneviewrs1057519639
scholarrs1057519639
googlers1057519639
pharmgkbrs1057519639
gwascentralrs1057519639
openSNPrs1057519639
23andMers1057519639
23andMe allrs1057519639
SNPshotrs1057519639
SNPdbers1057519639
MSV3drs1057519639
GWAS Ctlgrs1057519639
Max Magnitude0
ClinVar
Risk rs1057519639(G;G)
Alt rs1057519639(G;G)
Reference Rs1057519639(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.2694685A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000417316.1,