rs878853118

Orientation

minus

Stabilized

minus

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

Make rs878853118(ATGGG;GCT)

Make rs878853118(GCT;GCT)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

232485253

Gene

ECEL1

is a	snp
is	mentioned by
dbSNP	rs878853118
dbSNP (classic)	rs878853118
ClinGen	rs878853118
ebi	rs878853118
HLI	rs878853118
Exac	rs878853118
Gnomad	rs878853118
Varsome	rs878853118
LitVar	rs878853118
Map	rs878853118
PheGenI	rs878853118
Biobank	rs878853118
1000 genomes	rs878853118
hgdp	rs878853118
ensembl	rs878853118
geneview	rs878853118
scholar	rs878853118
google	rs878853118
pharmgkb	rs878853118
gwascentral	rs878853118
openSNP	rs878853118
23andMe	rs878853118
SNPshot	rs878853118
SNPdbe	rs878853118
MSV3d	rs878853118
GWAS Ctlg	rs878853118

Max Magnitude

0

ClinVar
Risk	rs878853118(GCT;GCT)
Alt	rs878853118(GCT;GCT)
Reference	Rs878853118(ATGGG;ATGGG)
Significance	Pathogenic
Disease	Arthrogryposis
Variation	info
Gene	ECEL1
CLNDBN	Arthrogryposis, distal, type 5d
Reversed	1
HGVS	NC_000002.11:g.233349963_233349967delCCCATinsAGC
CLNSRC
CLNACC	RCV000224404.1,