rs199422172

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(ATATT;ATATT)	0	common in clinvar
(TATTA;TATTA)	0	common in clinvar

Make rs199422172(-;-)

Make rs199422172(-;TATAT)

Make rs199422172(TATAT;TATAT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197101758

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422172
dbSNP (classic)	rs199422172
ClinGen	rs199422172
ebi	rs199422172
HLI	rs199422172
Exac	rs199422172
Gnomad	rs199422172
Varsome	rs199422172
LitVar	rs199422172
Map	rs199422172
PheGenI	rs199422172
Biobank	rs199422172
1000 genomes	rs199422172
hgdp	rs199422172
ensembl	rs199422172
geneview	rs199422172
scholar	rs199422172
google	rs199422172
pharmgkb	rs199422172
gwascentral	rs199422172
openSNP	rs199422172
23andMe	rs199422172
SNPshot	rs199422172
SNPdbe	rs199422172
MSV3d	rs199422172
GWAS Ctlg	rs199422172

Max Magnitude

0

ClinVar
Risk	rs199422172(-;-)
Alt	rs199422172(-;-)
Reference	Rs199422172(TATTA;TATTA)
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.197070888_197070892delATATA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020790.1,