rs387906392

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGCCT;GGGCC)	4
(GGGCC;GGGCC)	0	common in clinvar

Make rs387906392(AGCCT;AGCCT)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51913180

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs387906392
dbSNP (classic)	rs387906392
ClinGen	rs387906392
ebi	rs387906392
HLI	rs387906392
Exac	rs387906392
Gnomad	rs387906392
Varsome	rs387906392
LitVar	rs387906392
Map	rs387906392
PheGenI	rs387906392
Biobank	rs387906392
1000 genomes	rs387906392
hgdp	rs387906392
ensembl	rs387906392
geneview	rs387906392
scholar	rs387906392
google	rs387906392
pharmgkb	rs387906392
gwascentral	rs387906392
openSNP	rs387906392
23andMe	rs387906392
SNPshot	rs387906392
SNPdbe	rs387906392
MSV3d	rs387906392
GWAS Ctlg	rs387906392

Max Magnitude

4

ClinVar
Risk	rs387906392(AGCCT;AGCCT)
Alt	rs387906392(AGCCT;AGCCT)
Reference	Rs387906392(GGGCC;GGGCC)
Significance	Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2
Reversed	0
HGVS	NC_000012.11:g.52306964_52306968delGGGCCinsAGCCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008731.3,