rs397509389

Orientation

plus

Stabilized

plus

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

Make rs397509389(G;T)

Make rs397509389(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

73844893

Gene	LOC105374806, STAMBP

is a	snp
is	mentioned by
dbSNP	rs397509389
dbSNP (classic)	rs397509389
ClinGen	rs397509389
ebi	rs397509389
HLI	rs397509389
Exac	rs397509389
Gnomad	rs397509389
Varsome	rs397509389
LitVar	rs397509389
Map	rs397509389
PheGenI	rs397509389
Biobank	rs397509389
1000 genomes	rs397509389
hgdp	rs397509389
ensembl	rs397509389
geneview	rs397509389
scholar	rs397509389
google	rs397509389
pharmgkb	rs397509389
gwascentral	rs397509389
openSNP	rs397509389
23andMe	rs397509389
SNPshot	rs397509389
SNPdbe	rs397509389
MSV3d	rs397509389
GWAS Ctlg	rs397509389

Max Magnitude

0

ClinVar
Risk	rs397509389(T;T)
Alt	rs397509389(T;T)
Reference	Rs397509389(G;G)
Significance	Pathogenic
Disease	Microcephaly-capillary malformation syndrome
Variation	info
Gene	STAMBP
CLNDBN	Microcephaly-capillary malformation syndrome
Reversed	0
HGVS	NC_000002.11:g.74072020G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043575.5,