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rs964201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2
(A;G) 1.1
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome1
Position197101771
GeneASPM
is asnp
is mentioned by
dbSNPrs964201
ebirs964201
HLIrs964201
Exacrs964201
Varsomers964201
Maprs964201
PheGenIrs964201
hapmaprs964201
1000 genomesrs964201
hgdprs964201
ensemblrs964201
gopubmedrs964201
geneviewrs964201
scholarrs964201
googlers964201
pharmgkbrs964201
gwascentralrs964201
openSNPrs964201
23andMers964201
23andMe allrs964201
SNP Nexus

SNPshotrs964201
SNPdbers964201
MSV3drs964201
GWAS Ctlgrs964201
GMAF0.002755
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs964201 is an A/G SNP located in the ASPM gene. The G-allele of this SNP as well as the A-allele of rs3762271 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 found at g2b2mh.


Venter snp
Source plos
Gene ASPM
allele G
frequency 0
sift TOLERATED
HuRef 1103675303806
Disease Association Defects in ASPM are the cause of primary microcephaly 5 (MCPH5) (MIM:608716, 251200). Microcephaly is defined as a head circumference more than 3 standard deviations below the age- related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait and is also known as true microcephaly or microcephaly vera.



ClinVar
Risk rs964201(G;G)
Alt rs964201(G;G)
Reference rs964201(A;A)
Significance Non-pathogenic
Disease Primary autosomal recessive microcephaly 5 not specified
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not specified
Reversed 0
HGVS NC_000001.10:g.197070901A>G
CLNSRC ClinVar GeneDx GeneReviews University of Chicago
CLNACC RCV000020789.1, RCV000145183.5,



GET Evidence
ASPM-Y2494H
aa_change Tyr2494His
aa_change_short Y2494H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.996466
summary