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rs199422124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422124(C;G)
Make rs199422124(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position6409336
GeneMCPH1
is asnp
is mentioned by
dbSNPrs199422124
ebirs199422124
HLIrs199422124
Exacrs199422124
Varsomers199422124
Maprs199422124
PheGenIrs199422124
hapmaprs199422124
1000 genomesrs199422124
hgdprs199422124
ensemblrs199422124
gopubmedrs199422124
geneviewrs199422124
scholarrs199422124
googlers199422124
pharmgkbrs199422124
gwascentralrs199422124
openSNPrs199422124
23andMers199422124
23andMe allrs199422124
SNP Nexus

SNPshotrs199422124
SNPdbers199422124
MSV3drs199422124
GWAS Ctlgrs199422124
Max Magnitude0
ClinVar
Risk rs199422124(G;G)
Alt rs199422124(G;G)
Reference rs199422124(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 1
Variation info
Gene MCPH1
CLNDBN Primary autosomal recessive microcephaly 1
Reversed 0
HGVS NC_000008.10:g.6266857C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020902.1,