rs387906391

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CCT)	4
(-;CTC)	4.3	Hereditary hemorrhagic telangiectasia
(CCT;CCT)	0	common in clinvar
(CTC;CTC)	0	common in clinvar

Make rs387906391(-;-)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51914508

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs387906391
dbSNP (classic)	rs387906391
ClinGen	rs387906391
ebi	rs387906391
HLI	rs387906391
Exac	rs387906391
Gnomad	rs387906391
Varsome	rs387906391
LitVar	rs387906391
Map	rs387906391
PheGenI	rs387906391
Biobank	rs387906391
1000 genomes	rs387906391
hgdp	rs387906391
ensembl	rs387906391
geneview	rs387906391
scholar	rs387906391
google	rs387906391
pharmgkb	rs387906391
gwascentral	rs387906391
openSNP	rs387906391
23andMe	rs387906391
SNPshot	rs387906391
SNPdbe	rs387906391
MSV3d	rs387906391
GWAS Ctlg	rs387906391

Merged from

Rs878853415

Max Magnitude

4.3

ClinVar
Risk	rs387906391(-;-) Rs387906391(CTC;CTC)
Alt	rs387906391(-;-) Rs387906391(CTC;CTC)
Reference	Rs387906391(CCT;CCT)
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.52308293_52308295delCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000230219.2,