rs797045311

Orientation

minus

Stabilized

minus

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

Make rs797045311(-;T)

Make rs797045311(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

197128489

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs797045311
dbSNP (classic)	rs797045311
ClinGen	rs797045311
ebi	rs797045311
HLI	rs797045311
Exac	rs797045311
Gnomad	rs797045311
Varsome	rs797045311
LitVar	rs797045311
Map	rs797045311
PheGenI	rs797045311
Biobank	rs797045311
1000 genomes	rs797045311
hgdp	rs797045311
ensembl	rs797045311
geneview	rs797045311
scholar	rs797045311
google	rs797045311
pharmgkb	rs797045311
gwascentral	rs797045311
openSNP	rs797045311
23andMe	rs797045311
SNPshot	rs797045311
SNPdbe	rs797045311
MSV3d	rs797045311
GWAS Ctlg	rs797045311

Max Magnitude

0

ClinVar
Risk	rs797045311(T;T)
Alt	rs797045311(T;T)
Reference	Rs797045311(-;-)
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.197097620dupA
CLNSRC
CLNACC	RCV000194072.1,