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rs2515569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs2515569(A;A)
Make rs2515569(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position6444897
GeneMCPH1
is asnp
is mentioned by
dbSNPrs2515569
dbSNP (old)rs2515569
ClinGenrs2515569
ebirs2515569
HLIrs2515569
Exacrs2515569
Gnomadrs2515569
Varsomers2515569
LitVarrs2515569
Maprs2515569
PheGenIrs2515569
Biobankrs2515569
1000 genomesrs2515569
hgdprs2515569
ensemblrs2515569
gopubmedrs2515569
geneviewrs2515569
scholarrs2515569
googlers2515569
pharmgkbrs2515569
gwascentralrs2515569
openSNPrs2515569
23andMers2515569
23andMe allrs2515569
SNPshotrs2515569
SNPdbers2515569
MSV3drs2515569
GWAS Ctlgrs2515569
GMAF0.009183
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk Rs2515569(G;G)
Alt Rs2515569(G;G)
Reference rs2515569(A;A)
Significance Other
Disease not specified Primary Microcephaly
Variation info
Gene MCPH1
CLNDBN not specified Primary Microcephaly, Recessive
Reversed 0
HGVS NC_000008.10:g.6302418A>G
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000082198.7, RCV000267656.1,