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rs28936675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28936675(A;A)
Make rs28936675(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position155812032
GeneSHH
is asnp
is mentioned by
dbSNPrs28936675
ebirs28936675
HLIrs28936675
Exacrs28936675
Varsomers28936675
Maprs28936675
PheGenIrs28936675
hapmaprs28936675
1000 genomesrs28936675
hgdprs28936675
ensemblrs28936675
gopubmedrs28936675
geneviewrs28936675
scholarrs28936675
googlers28936675
pharmgkbrs28936675
gwascentralrs28936675
openSNPrs28936675
23andMers28936675
23andMe allrs28936675
SNP Nexus

SNPshotrs28936675
SNPdbers28936675
MSV3drs28936675
GWAS Ctlgrs28936675
Max Magnitude0
OMIM600725
DescHOLOPROSENCEPHALY 3
Variant0001
Relatedalso


ClinVar
Risk rs28936675(A;A)
Alt rs28936675(A;A)
Reference rs28936675(G;G)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155604726C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009427.2,