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rs3762271

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3762271(A;A)
Make rs3762271(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position197101312
GeneASPM
is asnp
is mentioned by
dbSNPrs3762271
ebirs3762271
HLIrs3762271
Exacrs3762271
Varsomers3762271
Maprs3762271
PheGenIrs3762271
hapmaprs3762271
1000 genomesrs3762271
hgdprs3762271
ensemblrs3762271
gopubmedrs3762271
geneviewrs3762271
scholarrs3762271
googlers3762271
pharmgkbrs3762271
gwascentralrs3762271
openSNPrs3762271
23andMers3762271
23andMe allrs3762271
SNP Nexus

SNPshotrs3762271
SNPdbers3762271
MSV3drs3762271
GWAS Ctlgrs3762271
GMAF0.2461
Max Magnitude0
? (A;A) (A;C) (C;C) 28
rs3762271 is an A/C SNP located in the ASPM gene. The A-allele of this SNP as well as the G-allele of rs964201 another SNP located in the ASPM gene and rs2442496 a SNP in the MCPH1 gene arose approximately 50,000 years ago and show strong positive selection in the lineage leading to humans. [PMID 16151010] A comment is provided by g2b2mh.


ClinVar
Risk rs3762271(A,T;A,T)
Alt rs3762271(A,T;A,T)
Reference rs3762271(C;C)
Significance Non-pathogenic
Disease Primary autosomal recessive microcephaly 5 not specified
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not specified
Reversed 1
HGVS NC_000001.10:g.197070442G>T
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020801.1, RCV000145204.1,



GET Evidence
ASPM-L2647I
aa_change Leu2647Ile
aa_change_short L2647I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.319814
summary