rs199422144

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(ATCTT;ATCTT)	0	common in clinvar
(CTTAT;CTTAT)	0	common in clinvar
(I;I)	0	common genotype
(TTATC;TTATC)	0	common in clinvar

Make rs199422144(-;-)

Make rs199422144(-;CTTAT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197142620

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422144
dbSNP (classic)	rs199422144
ClinGen	rs199422144
ebi	rs199422144
HLI	rs199422144
Exac	rs199422144
Gnomad	rs199422144
Varsome	rs199422144
LitVar	rs199422144
Map	rs199422144
PheGenI	rs199422144
Biobank	rs199422144
1000 genomes	rs199422144
hgdp	rs199422144
ensembl	rs199422144
geneview	rs199422144
scholar	rs199422144
google	rs199422144
pharmgkb	rs199422144
gwascentral	rs199422144
openSNP	rs199422144
23andMe	rs199422144
SNPshot	rs199422144
SNPdbe	rs199422144
MSV3d	rs199422144
GWAS Ctlg	rs199422144

Merged from

Rs199422145

Max Magnitude

0

ClinVar
Risk	Rs199422144(ATCTT;ATCTT) rs199422144(-;-)
Alt	Rs199422144(ATCTT;ATCTT) rs199422144(-;-)
Reference	Rs199422144(CTTAT;CTTAT)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5 not provided
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5 not provided
Reversed	1
HGVS	NC_000001.10:g.197111747_197111751delAAGAT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020748.3, RCV000392239.1,