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rs1057519642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519642(A;T)
Make rs1057519642(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position2697898
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs1057519642
dbSNP (old)rs1057519642
ClinGenrs1057519642
ebirs1057519642
HLIrs1057519642
Exacrs1057519642
Gnomadrs1057519642
Varsomers1057519642
LitVarrs1057519642
Maprs1057519642
PheGenIrs1057519642
Biobankrs1057519642
1000 genomesrs1057519642
hgdprs1057519642
ensemblrs1057519642
gopubmedrs1057519642
geneviewrs1057519642
scholarrs1057519642
googlers1057519642
pharmgkbrs1057519642
gwascentralrs1057519642
openSNPrs1057519642
23andMers1057519642
23andMe allrs1057519642
SNPshotrs1057519642
SNPdbers1057519642
MSV3drs1057519642
GWAS Ctlgrs1057519642
Max Magnitude0
ClinVar
Risk rs1057519642(T;T)
Alt rs1057519642(T;T)
Reference Rs1057519642(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.2697896A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000417324.1,