rs964201

plus

Geno	Mag	Summary
(A;A)	2
(A;G)	1.1
(G;G)	0	common in complete genomics

Reference

GRCh38 38.1/141

Chromosome

1

Position

197101771

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs964201
dbSNP (classic)	rs964201
ClinGen	rs964201
ebi	rs964201
HLI	rs964201
Exac	rs964201
Gnomad	rs964201
Varsome	rs964201
LitVar	rs964201
Map	rs964201
PheGenI	rs964201
Biobank	rs964201
1000 genomes	rs964201
hgdp	rs964201
ensembl	rs964201
geneview	rs964201
scholar	rs964201
google	rs964201
pharmgkb	rs964201
gwascentral	rs964201
openSNP	rs964201
23andMe	rs964201
SNPshot	rs964201
SNPdbe	rs964201
MSV3d	rs964201
GWAS Ctlg	rs964201

GMAF

0.002755

Max Magnitude

2

?

(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,