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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
ebirs2515569
HLIrs2515569
Exacrs2515569
Varsomers2515569
Maprs2515569
PheGenIrs2515569
hapmaprs2515569
1000 genomesrs2515569
hgdprs2515569
ensemblrs2515569
gopubmedrs2515569
geneviewrs2515569
scholarrs2515569
googlers2515569
pharmgkbrs2515569
gwascentralrs2515569
openSNPrs2515569
23andMers2515569
23andMe allrs2515569
SNP Nexus

SNPshotrs2515569
SNPdbers2515569
MSV3drs2515569
GWAS Ctlgrs2515569
GMAF0.009183
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene MCPH1
allele G
frequency 1
sift TOLERATED
HuRef 1103652231666
Disease Association Defects in MCPH1 are a cause of premature chromosome condensation with microcephaly and mental retardation (PCC syndrome) (MIM:606858). PCC syndrome is a disorder of microcephaly, short stature and misregulated chromosome condensation. Patients with this condition have a high number (10%-15%) of prophase-like cells in routine cytogenetic preparations and have poor-quality metaphase G-banding.



Neighborrs930557
Distance235


GET Evidence
MCPH1-D344G
aa_change Asp344Gly
aa_change_short D344G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs2515569(G;G)
Alt rs2515569(G;G)
Reference rs2515569(A;A)
Significance Other
Disease not specified
Variation info
Gene MCPH1
CLNDBN not specified
Reversed 0
HGVS NC_000008.10:g.6302418A>G
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000082198.6,