rs199422139

Orientation

minus

Stabilized

minus

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

Make rs199422139(-;-)

Make rs199422139(-;TCTCAAG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197142988

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422139
dbSNP (classic)	rs199422139
ClinGen	rs199422139
ebi	rs199422139
HLI	rs199422139
Exac	rs199422139
Gnomad	rs199422139
Varsome	rs199422139
LitVar	rs199422139
Map	rs199422139
PheGenI	rs199422139
Biobank	rs199422139
1000 genomes	rs199422139
hgdp	rs199422139
ensembl	rs199422139
geneview	rs199422139
scholar	rs199422139
google	rs199422139
pharmgkb	rs199422139
gwascentral	rs199422139
openSNP	rs199422139
23andMe	rs199422139
SNPshot	rs199422139
SNPdbe	rs199422139
MSV3d	rs199422139
GWAS Ctlg	rs199422139

Merged from

Rs199422140

Max Magnitude

0

ClinVar
Risk	Rs199422139(TCAAGTC;TCAAGTC) rs199422139(-;-)
Alt	Rs199422139(TCAAGTC;TCAAGTC) rs199422139(-;-)
Reference	Rs199422139(TCTCAAG;TCTCAAG)
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,