Have questions? Visit https://www.reddit.com/r/SNPedia

rs753780877

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs753780877(C;C)
Make rs753780877(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position63656210
GeneHERC1
is asnp
is mentioned by
dbSNPrs753780877
ebirs753780877
HLIrs753780877
Exacrs753780877
Varsomers753780877
Maprs753780877
PheGenIrs753780877
hapmaprs753780877
1000 genomesrs753780877
hgdprs753780877
ensemblrs753780877
gopubmedrs753780877
geneviewrs753780877
scholarrs753780877
googlers753780877
pharmgkbrs753780877
gwascentralrs753780877
openSNPrs753780877
23andMers753780877
23andMe allrs753780877
SNP Nexus

SNPshotrs753780877
SNPdbers753780877
MSV3drs753780877
GWAS Ctlgrs753780877
Max Magnitude0
ClinVar
Risk rs753780877(A,C;A,C)
Alt rs753780877(A,C;A,C)
Reference rs753780877(G;G)
Significance Pathogenic
Disease Megalencephaly with thick corpus callosum Macrocephaly
Variation info
Gene HERC1
CLNDBN Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability Macrocephaly, dysmorphic facies, and psychomotor retardation
Reversed 0
HGVS NC_000015.9:g.63948409G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000186608.2, RCV000235006.2,