rs398122976

Orientation

minus

Stabilized

minus

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

Make rs398122976(G;G)

Make rs398122976(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

47269857

Gene

STIL

is a	snp
is	mentioned by
dbSNP	rs398122976
dbSNP (classic)	rs398122976
ClinGen	rs398122976
ebi	rs398122976
HLI	rs398122976
Exac	rs398122976
Gnomad	rs398122976
Varsome	rs398122976
LitVar	rs398122976
Map	rs398122976
PheGenI	rs398122976
Biobank	rs398122976
1000 genomes	rs398122976
hgdp	rs398122976
ensembl	rs398122976
geneview	rs398122976
scholar	rs398122976
google	rs398122976
pharmgkb	rs398122976
gwascentral	rs398122976
openSNP	rs398122976
23andMe	rs398122976
SNPshot	rs398122976
SNPdbe	rs398122976
MSV3d	rs398122976
GWAS Ctlg	rs398122976

Max Magnitude

0

ClinVar
Risk	rs398122976(G;G)
Alt	rs398122976(G;G)
Reference	Rs398122976(T;T)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 7
Variation	info
Gene	STIL
CLNDBN	Primary autosomal recessive microcephaly 7
Reversed	1
HGVS	NC_000001.10:g.47735529A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000077751.3,