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rs267606667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606667(A;A)
Make rs267606667(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position102958296
GeneASCL1
is asnp
is mentioned by
dbSNPrs267606667
ebirs267606667
HLIrs267606667
Exacrs267606667
Varsomers267606667
Maprs267606667
PheGenIrs267606667
hapmaprs267606667
1000 genomesrs267606667
hgdprs267606667
ensemblrs267606667
gopubmedrs267606667
geneviewrs267606667
scholarrs267606667
googlers267606667
pharmgkbrs267606667
gwascentralrs267606667
openSNPrs267606667
23andMers267606667
23andMe allrs267606667
SNP Nexus

SNPshotrs267606667
SNPdbers267606667
MSV3drs267606667
GWAS Ctlgrs267606667
Max Magnitude0
ClinVar
Risk rs267606667(A;A)
Alt rs267606667(A;A)
Reference rs267606667(C;C)
Significance Pathogenic
Disease Congenital central hypoventilation
Variation info
Gene ASCL1
CLNDBN Congenital central hypoventilation
Reversed 0
HGVS NC_000012.11:g.103352074C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019998.26,