Have questions? Visit https://www.reddit.com/r/SNPedia

rs267607047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607047(A;A)
Make rs267607047(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position155806513
GeneSHH
is asnp
is mentioned by
dbSNPrs267607047
ebirs267607047
HLIrs267607047
Exacrs267607047
Varsomers267607047
Maprs267607047
PheGenIrs267607047
hapmaprs267607047
1000 genomesrs267607047
hgdprs267607047
ensemblrs267607047
gopubmedrs267607047
geneviewrs267607047
scholarrs267607047
googlers267607047
pharmgkbrs267607047
gwascentralrs267607047
openSNPrs267607047
23andMers267607047
23andMe allrs267607047
SNP Nexus

SNPshotrs267607047
SNPdbers267607047
MSV3drs267607047
GWAS Ctlgrs267607047
Max Magnitude0
ClinVar
Risk rs267607047(A;A)
Alt rs267607047(A;A)
Reference rs267607047(C;C)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155599207G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009447.4,