rs587776919

Orientation

plus

Stabilized

plus

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

Make rs587776919(G;T)

Make rs587776919(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

232484156

Gene

ECEL1

is a	snp
is	mentioned by
dbSNP	rs587776919
dbSNP (classic)	rs587776919
ClinGen	rs587776919
ebi	rs587776919
HLI	rs587776919
Exac	rs587776919
Gnomad	rs587776919
Varsome	rs587776919
LitVar	rs587776919
Map	rs587776919
PheGenI	rs587776919
Biobank	rs587776919
1000 genomes	rs587776919
hgdp	rs587776919
ensembl	rs587776919
geneview	rs587776919
scholar	rs587776919
google	rs587776919
pharmgkb	rs587776919
gwascentral	rs587776919
openSNP	rs587776919
23andMe	rs587776919
SNPshot	rs587776919
SNPdbe	rs587776919
MSV3d	rs587776919
GWAS Ctlg	rs587776919

Max Magnitude

0

ClinVar
Risk	rs587776919(A;A) rs587776919(T;T)
Alt	rs587776919(A;A) rs587776919(T;T)
Reference	Rs587776919(G;G)
Significance	Pathogenic
Disease	Arthrogryposis
Variation	info
Gene	ECEL1
CLNDBN	Arthrogryposis, distal, type 5d
Reversed	0
HGVS	NC_000002.11:g.233348866G>A; NC_000002.11:g.233348866G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032688.6, RCV000224367.1, RCV000032686.4, RCV000224716.1,