rs199422142

Orientation

minus

Stabilized

minus

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

Make rs199422142(-;-)

Make rs199422142(-;ATCCTAAA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197142839

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422142
dbSNP (classic)	rs199422142
ClinGen	rs199422142
ebi	rs199422142
HLI	rs199422142
Exac	rs199422142
Gnomad	rs199422142
Varsome	rs199422142
LitVar	rs199422142
Map	rs199422142
PheGenI	rs199422142
Biobank	rs199422142
1000 genomes	rs199422142
hgdp	rs199422142
ensembl	rs199422142
geneview	rs199422142
scholar	rs199422142
google	rs199422142
pharmgkb	rs199422142
gwascentral	rs199422142
openSNP	rs199422142
23andMe	rs199422142
SNPshot	rs199422142
SNPdbe	rs199422142
MSV3d	rs199422142
GWAS Ctlg	rs199422142

Max Magnitude

0

ClinVar
Risk	rs199422142(-;-)
Alt	rs199422142(-;-)
Reference	Rs199422142(ATCCTAAA;ATCCTAAA)
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.197111969_197111976delTTTAGGAT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020745.1,