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rs1057519640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519640(A;G)
Make rs1057519640(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position2697034
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs1057519640
dbSNP (old)rs1057519640
ClinGenrs1057519640
ebirs1057519640
HLIrs1057519640
Exacrs1057519640
Gnomadrs1057519640
Varsomers1057519640
LitVarrs1057519640
Maprs1057519640
PheGenIrs1057519640
Biobankrs1057519640
1000 genomesrs1057519640
hgdprs1057519640
ensemblrs1057519640
gopubmedrs1057519640
geneviewrs1057519640
scholarrs1057519640
googlers1057519640
pharmgkbrs1057519640
gwascentralrs1057519640
openSNPrs1057519640
23andMers1057519640
23andMe allrs1057519640
SNPshotrs1057519640
SNPdbers1057519640
MSV3drs1057519640
GWAS Ctlgrs1057519640
Max Magnitude0
ClinVar
Risk rs1057519640(G;G)
Alt rs1057519640(G;G)
Reference Rs1057519640(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.2697032A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000417236.1,