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rs397515376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCGCCCTTC;GCGCCCTTC) 0 common in clinvar
Make rs397515376(-;-)
Make rs397515376(-;GCGCCCTTC)
ReferenceGRCh38 38.1/141
Chromosome7
Position155803149
GeneSHH
is asnp
is mentioned by
dbSNPrs397515376
ebirs397515376
HLIrs397515376
Exacrs397515376
Varsomers397515376
Maprs397515376
PheGenIrs397515376
hapmaprs397515376
1000 genomesrs397515376
hgdprs397515376
ensemblrs397515376
gopubmedrs397515376
geneviewrs397515376
scholarrs397515376
googlers397515376
pharmgkbrs397515376
gwascentralrs397515376
openSNPrs397515376
23andMers397515376
23andMe allrs397515376
SNP Nexus

SNPshotrs397515376
SNPdbers397515376
MSV3drs397515376
GWAS Ctlgrs397515376
Max Magnitude0
ClinVar
Risk rs397515376(;)
Alt rs397515376(;)
Reference rs397515376(GCGCCCTTC;GCGCCCTTC)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155595843_155595851delGAAGGGCGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009439.2,