rs1060503235

Orientation

plus

Stabilized

plus

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

Make rs1060503235(A;A)

Make rs1060503235(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51916204

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1060503235
dbSNP (classic)	rs1060503235
ClinGen	rs1060503235
ebi	rs1060503235
HLI	rs1060503235
Exac	rs1060503235
Gnomad	rs1060503235
Varsome	rs1060503235
LitVar	rs1060503235
Map	rs1060503235
PheGenI	rs1060503235
Biobank	rs1060503235
1000 genomes	rs1060503235
hgdp	rs1060503235
ensembl	rs1060503235
geneview	rs1060503235
scholar	rs1060503235
google	rs1060503235
pharmgkb	rs1060503235
gwascentral	rs1060503235
openSNP	rs1060503235
23andMe	rs1060503235
SNPshot	rs1060503235
SNPdbe	rs1060503235
MSV3d	rs1060503235
GWAS Ctlg	rs1060503235

Max Magnitude

0

ClinVar
Risk	rs1060503235(A;A)
Alt	rs1060503235(A;A)
Reference	Rs1060503235(G;G)
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.52309988G>A
CLNSRC
CLNACC	RCV000475631.1,