rs878853415

Merged into

rs387906391

Orientation

plus

Stabilized

plus

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

Make rs878853415(-;-)

Make rs878853415(-;CTC)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

51914509

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs878853415
dbSNP (classic)	rs878853415
ClinGen	rs878853415
ebi	rs878853415
HLI	rs878853415
Exac	rs878853415
Gnomad	rs878853415
Varsome	rs878853415
LitVar	rs878853415
Map	rs878853415
PheGenI	rs878853415
Biobank	rs878853415
1000 genomes	rs878853415
hgdp	rs878853415
ensembl	rs878853415
geneview	rs878853415
scholar	rs878853415
google	rs878853415
pharmgkb	rs878853415
gwascentral	rs878853415
openSNP	rs878853415
23andMe	rs878853415
SNPshot	rs878853415
SNPdbe	rs878853415
MSV3d	rs878853415
GWAS Ctlg	rs878853415

Status

Merged into rs387906391

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs878853415(CTC;CTC)
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,