rs606231471

Orientation

minus

Stabilized

minus

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

Make rs606231471(A;A)

Make rs606231471(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

232481123

Gene

ECEL1

is a	snp
is	mentioned by
dbSNP	rs606231471
dbSNP (classic)	rs606231471
ClinGen	rs606231471
ebi	rs606231471
HLI	rs606231471
Exac	rs606231471
Gnomad	rs606231471
Varsome	rs606231471
LitVar	rs606231471
Map	rs606231471
PheGenI	rs606231471
Biobank	rs606231471
1000 genomes	rs606231471
hgdp	rs606231471
ensembl	rs606231471
geneview	rs606231471
scholar	rs606231471
google	rs606231471
pharmgkb	rs606231471
gwascentral	rs606231471
openSNP	rs606231471
23andMe	rs606231471
SNPshot	rs606231471
SNPdbe	rs606231471
MSV3d	rs606231471
GWAS Ctlg	rs606231471

Max Magnitude

0

ClinVar
Risk	rs606231471(A;A) rs606231471(T;T)
Alt	rs606231471(A;A) rs606231471(T;T)
Reference	Rs606231471(G;G)
Significance	Pathogenic
Disease	Arthrogryposis
Variation	info
Gene	ECEL1
CLNDBN	Arthrogryposis, distal, type 5d
Reversed	1
HGVS	NC_000002.11:g.233345833C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148953.4,