rs397509387

Orientation

plus

Stabilized

plus

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

Make rs397509387(A;G)

Make rs397509387(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

73830981

Gene	LOC105374807, STAMBP

is a	snp
is	mentioned by
dbSNP	rs397509387
dbSNP (classic)	rs397509387
ClinGen	rs397509387
ebi	rs397509387
HLI	rs397509387
Exac	rs397509387
Gnomad	rs397509387
Varsome	rs397509387
LitVar	rs397509387
Map	rs397509387
PheGenI	rs397509387
Biobank	rs397509387
1000 genomes	rs397509387
hgdp	rs397509387
ensembl	rs397509387
geneview	rs397509387
scholar	rs397509387
google	rs397509387
pharmgkb	rs397509387
gwascentral	rs397509387
openSNP	rs397509387
23andMe	rs397509387
SNPshot	rs397509387
SNPdbe	rs397509387
MSV3d	rs397509387
GWAS Ctlg	rs397509387

Max Magnitude

0

ClinVar
Risk	rs397509387(G;G)
Alt	rs397509387(G;G)
Reference	Rs397509387(A;A)
Significance	Pathogenic
Disease	Microcephaly-capillary malformation syndrome
Variation	info
Gene	STAMBP
CLNDBN	Microcephaly-capillary malformation syndrome
Reversed	0
HGVS	NC_000002.11:g.74058108A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043572.2,