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rs879253786

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253786(A;A)
Make rs879253786(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position63734745
GeneHERC1
is asnp
is mentioned by
dbSNPrs879253786
ebirs879253786
HLIrs879253786
Exacrs879253786
Varsomers879253786
Maprs879253786
PheGenIrs879253786
hapmaprs879253786
1000 genomesrs879253786
hgdprs879253786
ensemblrs879253786
gopubmedrs879253786
geneviewrs879253786
scholarrs879253786
googlers879253786
pharmgkbrs879253786
gwascentralrs879253786
openSNPrs879253786
23andMers879253786
23andMe allrs879253786
SNP Nexus

SNPshotrs879253786
SNPdbers879253786
MSV3drs879253786
GWAS Ctlgrs879253786
Max Magnitude0
ClinVar
Risk rs879253786(A;A)
Alt rs879253786(A;A)
Reference rs879253786(G;G)
Significance Pathogenic
Disease Macrocephaly
Variation info
Gene HERC1
CLNDBN Macrocephaly, dysmorphic facies, and psychomotor retardation
Reversed 1
HGVS NC_000015.9:g.64026944C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000235009.2,