rs199422145

Merged into

rs199422144

Orientation

minus

Stabilized

minus

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

Make rs199422145(-;-)

Make rs199422145(-;ATCTT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197142617

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422145
dbSNP (classic)	rs199422145
ClinGen	rs199422145
ebi	rs199422145
HLI	rs199422145
Exac	rs199422145
Gnomad	rs199422145
Varsome	rs199422145
LitVar	rs199422145
Map	rs199422145
PheGenI	rs199422145
Biobank	rs199422145
1000 genomes	rs199422145
hgdp	rs199422145
ensembl	rs199422145
geneview	rs199422145
scholar	rs199422145
google	rs199422145
pharmgkb	rs199422145
gwascentral	rs199422145
openSNP	rs199422145
23andMe	rs199422145
SNPshot	rs199422145
SNPdbe	rs199422145
MSV3d	rs199422145
GWAS Ctlg	rs199422145

Status

Merged into rs199422144

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs199422145(ATCTT;ATCTT)
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.197111747_197111751delAAGAT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020748.3,