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rs797045141

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045141(A;C)
Make rs797045141(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position63696341
GeneHERC1
is asnp
is mentioned by
dbSNPrs797045141
ebirs797045141
HLIrs797045141
Exacrs797045141
Varsomers797045141
Maprs797045141
PheGenIrs797045141
hapmaprs797045141
1000 genomesrs797045141
hgdprs797045141
ensemblrs797045141
gopubmedrs797045141
geneviewrs797045141
scholarrs797045141
googlers797045141
pharmgkbrs797045141
gwascentralrs797045141
openSNPrs797045141
23andMers797045141
23andMe allrs797045141
SNP Nexus

SNPshotrs797045141
SNPdbers797045141
MSV3drs797045141
GWAS Ctlgrs797045141
Max Magnitude0
ClinVar
Risk rs797045141(C;C)
Alt rs797045141(C;C)
Reference rs797045141(A;A)
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 1
HGVS NC_000015.9:g.63988540T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000190895.1, RCV000235008.2,