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rs104894047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894047(A;A)
Make rs104894047(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position155803420
GeneSHH
is asnp
is mentioned by
dbSNPrs104894047
ebirs104894047
HLIrs104894047
Exacrs104894047
Varsomers104894047
Maprs104894047
PheGenIrs104894047
hapmaprs104894047
1000 genomesrs104894047
hgdprs104894047
ensemblrs104894047
gopubmedrs104894047
geneviewrs104894047
scholarrs104894047
googlers104894047
pharmgkbrs104894047
gwascentralrs104894047
openSNPrs104894047
23andMers104894047
23andMe allrs104894047
SNP Nexus

SNPshotrs104894047
SNPdbers104894047
MSV3drs104894047
GWAS Ctlgrs104894047
GMAF0.007805
Max Magnitude0
OMIM600725
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894047(A;A)
Alt rs104894047(A;A)
Reference rs104894047(G;G)
Significance Pathogenic
Disease Holoprosencephaly 3 SCHIZENCEPHALY not specified
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3 SCHIZENCEPHALY not specified
Reversed 1
HGVS NC_000007.13:g.155596114C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009437.2, RCV000023032.2, RCV000177010.1,


GET Evidence
SHH-G290V
aa_change Gly290Val
aa_change_short G290V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary