rs199422140

Merged into

rs199422139

Orientation

minus

Stabilized

minus

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

Make rs199422140(-;-)

Make rs199422140(-;TCAAGTC)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197142986

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422140
dbSNP (classic)	rs199422140
ClinGen	rs199422140
ebi	rs199422140
HLI	rs199422140
Exac	rs199422140
Gnomad	rs199422140
Varsome	rs199422140
LitVar	rs199422140
Map	rs199422140
PheGenI	rs199422140
Biobank	rs199422140
1000 genomes	rs199422140
hgdp	rs199422140
ensembl	rs199422140
geneview	rs199422140
scholar	rs199422140
google	rs199422140
pharmgkb	rs199422140
gwascentral	rs199422140
openSNP	rs199422140
23andMe	rs199422140
SNPshot	rs199422140
SNPdbe	rs199422140
MSV3d	rs199422140
GWAS Ctlg	rs199422140

Status

Merged into rs199422139

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs199422140(TCAAGTC;TCAAGTC)
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.197112116_197112122delGACTTGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020742.4,