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rs1057519645

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519645(A;T)
Make rs1057519645(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position2667010
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs1057519645
dbSNP (old)rs1057519645
ClinGenrs1057519645
ebirs1057519645
HLIrs1057519645
Exacrs1057519645
Gnomadrs1057519645
Varsomers1057519645
Maprs1057519645
PheGenIrs1057519645
Biobankrs1057519645
1000 genomesrs1057519645
hgdprs1057519645
ensemblrs1057519645
gopubmedrs1057519645
geneviewrs1057519645
scholarrs1057519645
googlers1057519645
pharmgkbrs1057519645
gwascentralrs1057519645
openSNPrs1057519645
23andMers1057519645
23andMe allrs1057519645
SNPshotrs1057519645
SNPdbers1057519645
MSV3drs1057519645
GWAS Ctlgrs1057519645
Max Magnitude0
ClinVar
Risk rs1057519645(T;T)
Alt rs1057519645(T;T)
Reference Rs1057519645(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.2667009A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000417256.1,