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rs769677823

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs769677823(C;G)
Make rs769677823(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position63623777
GeneHERC1
is asnp
is mentioned by
dbSNPrs769677823
ebirs769677823
HLIrs769677823
Exacrs769677823
Varsomers769677823
Maprs769677823
PheGenIrs769677823
hapmaprs769677823
1000 genomesrs769677823
hgdprs769677823
ensemblrs769677823
gopubmedrs769677823
geneviewrs769677823
scholarrs769677823
googlers769677823
pharmgkbrs769677823
gwascentralrs769677823
openSNPrs769677823
23andMers769677823
23andMe allrs769677823
SNP Nexus

SNPshotrs769677823
SNPdbers769677823
MSV3drs769677823
GWAS Ctlgrs769677823
Max Magnitude0
ClinVar
Risk rs769677823(G;G)
Alt rs769677823(G;G)
Reference rs769677823(C;C)
Significance Pathogenic
Disease Macrocephaly
Variation info
Gene HERC1
CLNDBN Macrocephaly, dysmorphic facies, and psychomotor retardation
Reversed 0
HGVS NC_000015.9:g.63915976C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000235003.2,