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rs587777036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777036(C;T)
Make rs587777036(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position8939418
GenePHC1
is asnp
is mentioned by
dbSNPrs587777036
ebirs587777036
HLIrs587777036
Exacrs587777036
Varsomers587777036
Maprs587777036
PheGenIrs587777036
hapmaprs587777036
1000 genomesrs587777036
hgdprs587777036
ensemblrs587777036
gopubmedrs587777036
geneviewrs587777036
scholarrs587777036
googlers587777036
pharmgkbrs587777036
gwascentralrs587777036
openSNPrs587777036
23andMers587777036
23andMe allrs587777036
SNP Nexus

SNPshotrs587777036
SNPdbers587777036
MSV3drs587777036
GWAS Ctlgrs587777036
Max Magnitude0
ClinVar
Risk rs587777036(T;T)
Alt rs587777036(T;T)
Reference rs587777036(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 11 Intellectual disability Primary microcephaly
Variation info
Gene PHC1
CLNDBN Primary autosomal recessive microcephaly 11 Intellectual disability Primary microcephaly
Reversed 0
HGVS NC_000012.11:g.9092014C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000055626.3, RCV000162141.1,