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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
dbSNP (classic)rs964201
ClinGenrs964201
ebirs964201
HLIrs964201
Exacrs964201
Gnomadrs964201
Varsomers964201
LitVarrs964201
Maprs964201
PheGenIrs964201
Biobankrs964201
1000 genomesrs964201
hgdprs964201
ensemblrs964201
geneviewrs964201
scholarrs964201
googlers964201
pharmgkbrs964201
gwascentralrs964201
openSNPrs964201
23andMers964201
23andMe allrs964201
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.



ClinVar
Risk Rs964201(G;G)
Alt Rs964201(G;G)
Reference Rs964201(A;A)
Significance Non-pathogenic
Disease Primary autosomal recessive microcephaly 5 not specified Primary Microcephaly
Variation info
Gene ASPM
CLNDBN Primary autosomal recessive microcephaly 5 not specified Primary Microcephaly, Recessive
Reversed 0
HGVS NC_000001.10:g.197070901A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000020789.1, RCV000145183.6, RCV000332016.1,