rs587776918

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(ACCTGGACGCCA;ACCTGGACGCCA)	0	common in clinvar
(ACCTGGACGCCAG;ACCTGGACGCCAG)	0	common in clinvar
(I;I)	0	common genotype
(TGGCGTCCAGGT;TGGCGTCCAGGT)	0	common in clinvar

Make rs587776918(-;-)

Make rs587776918(-;TGGCGTCCAGGT)

Reference

GRCh38 38.1/142

Chromosome

2

Position

232486299

Gene

ECEL1

is a	snp
is	mentioned by
dbSNP	rs587776918
dbSNP (classic)	rs587776918
ClinGen	rs587776918
ebi	rs587776918
HLI	rs587776918
Exac	rs587776918
Gnomad	rs587776918
Varsome	rs587776918
LitVar	rs587776918
Map	rs587776918
PheGenI	rs587776918
Biobank	rs587776918
1000 genomes	rs587776918
hgdp	rs587776918
ensembl	rs587776918
geneview	rs587776918
scholar	rs587776918
google	rs587776918
pharmgkb	rs587776918
gwascentral	rs587776918
openSNP	rs587776918
23andMe	rs587776918
SNPshot	rs587776918
SNPdbe	rs587776918
MSV3d	rs587776918
GWAS Ctlg	rs587776918

Max Magnitude

0

ClinVar
Risk	Rs587776918(TGGCGTCCAGGT;TGGCGTCCAGGT) rs587776918(-;-)
Alt	Rs587776918(TGGCGTCCAGGT;TGGCGTCCAGGT) rs587776918(-;-)
Reference	Rs587776918(ACCTGGACGCCA;ACCTGGACGCCA)
Significance	Pathogenic
Disease	Arthrogryposis
Variation	info
Gene	ECEL1
CLNDBN	Arthrogryposis, distal, type 5d
Reversed	1
HGVS	NC_000002.11:g.233351009_233351020delTGGCGTCCAGGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032685.3, RCV000224209.1,