rs797045316

Orientation

minus

Stabilized

minus

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

Make rs797045316(-;A)

Make rs797045316(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

197101393

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs797045316
dbSNP (classic)	rs797045316
ClinGen	rs797045316
ebi	rs797045316
HLI	rs797045316
Exac	rs797045316
Gnomad	rs797045316
Varsome	rs797045316
LitVar	rs797045316
Map	rs797045316
PheGenI	rs797045316
Biobank	rs797045316
1000 genomes	rs797045316
hgdp	rs797045316
ensembl	rs797045316
geneview	rs797045316
scholar	rs797045316
google	rs797045316
pharmgkb	rs797045316
gwascentral	rs797045316
openSNP	rs797045316
23andMe	rs797045316
SNPshot	rs797045316
SNPdbe	rs797045316
MSV3d	rs797045316
GWAS Ctlg	rs797045316

Max Magnitude

0

ClinVar
Risk	rs797045316(A;A)
Alt	rs797045316(A;A)
Reference	Rs797045316(-;-)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5
Reversed	1
HGVS	NC_000001.10:g.197070524dupT
CLNSRC
CLNACC	RCV000192379.1,