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

rs104894043

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894043(A;A)
Make rs104894043(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position155803613
GeneSHH
is asnp
is mentioned by
dbSNPrs104894043
ebirs104894043
HLIrs104894043
Exacrs104894043
Varsomers104894043
Maprs104894043
PheGenIrs104894043
hapmaprs104894043
1000 genomesrs104894043
hgdprs104894043
ensemblrs104894043
gopubmedrs104894043
geneviewrs104894043
scholarrs104894043
googlers104894043
pharmgkbrs104894043
gwascentralrs104894043
openSNPrs104894043
23andMers104894043
23andMe allrs104894043
SNP Nexus

SNPshotrs104894043
SNPdbers104894043
MSV3drs104894043
GWAS Ctlgrs104894043
Max Magnitude0
OMIM600725
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894043(A;A)
Alt rs104894043(A;A)
Reference rs104894043(G;G)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155596307C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009433.2,