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rs116840754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTTCCTCTGACCGATGGAG;CTTCCTCTGACCGATGGAG) 0 common in clinvar
Make rs116840754(-;-)
Make rs116840754(-;CTTCCTCTGACCGATGGAG)
ReferenceGRCh38 38.1/141
Chromosome7
Position41967821
GeneGLI3
is asnp
is mentioned by
dbSNPrs116840754
dbSNP (old)rs116840754
ClinGenrs116840754
ebirs116840754
HLIrs116840754
Exacrs116840754
Varsomers116840754
Maprs116840754
PheGenIrs116840754
Biobankrs116840754
1000 genomesrs116840754
hgdprs116840754
ensemblrs116840754
gopubmedrs116840754
geneviewrs116840754
scholarrs116840754
googlers116840754
pharmgkbrs116840754
gwascentralrs116840754
openSNPrs116840754
23andMers116840754
23andMe allrs116840754
SNP Nexus

SNPshotrs116840754
SNPdbers116840754
MSV3drs116840754
GWAS Ctlgrs116840754
Max Magnitude0
OMIM165240
Desc
Variant0017
Relatedalso
ClinVar
Risk rs116840754(-;-)
Alt rs116840754(-;-)
Reference Rs116840754(CTTCCTCTGACCGATGGAG;CTTCCTCTGACCGATGGAG)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007419_42007437del19
CLNSRC OMIM Allelic Variant
CLNACC RCV000014841.24,


[PMID 10945658] Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.


[PMID 15739154OA-icon.png] Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.