rs587776920

Orientation

plus

Stabilized

minus

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

Make rs587776920(A;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

232484469

Gene

ECEL1

is a	snp
is	mentioned by
dbSNP	rs587776920
dbSNP (classic)	rs587776920
ClinGen	rs587776920
ebi	rs587776920
HLI	rs587776920
Exac	rs587776920
Gnomad	rs587776920
Varsome	rs587776920
LitVar	rs587776920
Map	rs587776920
PheGenI	rs587776920
Biobank	rs587776920
1000 genomes	rs587776920
hgdp	rs587776920
ensembl	rs587776920
geneview	rs587776920
scholar	rs587776920
google	rs587776920
pharmgkb	rs587776920
gwascentral	rs587776920
openSNP	rs587776920
23andMe	rs587776920
SNPshot	rs587776920
SNPdbe	rs587776920
MSV3d	rs587776920
GWAS Ctlg	rs587776920

Max Magnitude

0

ClinVar
Risk	Rs587776920(T;T)
Alt	Rs587776920(T;T)
Reference	Rs587776920(A;A)
Significance	Pathogenic
Disease	Arthrogryposis
Variation	info
Gene	ECEL1
CLNDBN	Arthrogryposis, distal, type 5d
Reversed	1
HGVS	NC_000002.11:g.233349179T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032687.4, RCV000224716.1,