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rs397515365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCGAGAA;CCGAGAA) 0 common in clinvar
Make rs397515365(-;-)
Make rs397515365(-;CCGAGAA)
ReferenceGRCh38 38.1/141
Chromosome13
Position99983104
GeneZIC2
is asnp
is mentioned by
dbSNPrs397515365
ebirs397515365
HLIrs397515365
Exacrs397515365
Varsomers397515365
Maprs397515365
PheGenIrs397515365
hapmaprs397515365
1000 genomesrs397515365
hgdprs397515365
ensemblrs397515365
gopubmedrs397515365
geneviewrs397515365
scholarrs397515365
googlers397515365
pharmgkbrs397515365
gwascentralrs397515365
openSNPrs397515365
23andMers397515365
23andMe allrs397515365
SNP Nexus

SNPshotrs397515365
SNPdbers397515365
MSV3drs397515365
GWAS Ctlgrs397515365
Max Magnitude0
ClinVar
Risk rs397515365(;)
Alt rs397515365(;)
Reference rs397515365(CCGAGAA;CCGAGAA)
Significance Pathogenic
Disease Holoprosencephaly 5
Variation info
Gene ZIC2
CLNDBN Holoprosencephaly 5
Reversed 0
HGVS NC_000013.10:g.100635358_100635364delCCGAGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007019.2,