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rs1057519641

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519641(C;C)
Make rs1057519641(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position2667030
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs1057519641
dbSNP (old)rs1057519641
ClinGenrs1057519641
ebirs1057519641
HLIrs1057519641
Exacrs1057519641
Gnomadrs1057519641
Varsomers1057519641
Maprs1057519641
PheGenIrs1057519641
Biobankrs1057519641
1000 genomesrs1057519641
hgdprs1057519641
ensemblrs1057519641
gopubmedrs1057519641
geneviewrs1057519641
scholarrs1057519641
googlers1057519641
pharmgkbrs1057519641
gwascentralrs1057519641
openSNPrs1057519641
23andMers1057519641
23andMe allrs1057519641
SNPshotrs1057519641
SNPdbers1057519641
MSV3drs1057519641
GWAS Ctlgrs1057519641
Max Magnitude0
ClinVar
Risk rs1057519641(C;C)
Alt rs1057519641(C;C)
Reference Rs1057519641(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.2667029G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000417278.1,