rs3762271

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs3762271(A;A)

Make rs3762271(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197101312

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs3762271
dbSNP (classic)	rs3762271
ClinGen	rs3762271
ebi	rs3762271
HLI	rs3762271
Exac	rs3762271
Gnomad	rs3762271
Varsome	rs3762271
LitVar	rs3762271
Map	rs3762271
PheGenI	rs3762271
Biobank	rs3762271
1000 genomes	rs3762271
hgdp	rs3762271
ensembl	rs3762271
geneview	rs3762271
scholar	rs3762271
google	rs3762271
pharmgkb	rs3762271
gwascentral	rs3762271
openSNP	rs3762271
23andMe	rs3762271
SNPshot	rs3762271
SNPdbe	rs3762271
MSV3d	rs3762271
GWAS Ctlg	rs3762271

GMAF

0.2461

Max Magnitude

0

?

(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;A) rs3762271(T;T)
Alt	rs3762271(A;A) rs3762271(T;T)
Reference	Rs3762271(C;C)
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	1
HGVS	NC_000001.10:g.197070442G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020801.1, RCV000145204.2, RCV000295618.1,