rs80356546

Orientation

plus

Stabilized

plus

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

Make rs80356546(A;G)

Make rs80356546(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

47206011

Gene	INE1, LOC105373194, UBA1

is a	snp
is	mentioned by
dbSNP	rs80356546
dbSNP (classic)	rs80356546
ClinGen	rs80356546
ebi	rs80356546
HLI	rs80356546
Exac	rs80356546
Gnomad	rs80356546
Varsome	rs80356546
LitVar	rs80356546
Map	rs80356546
PheGenI	rs80356546
Biobank	rs80356546
1000 genomes	rs80356546
hgdp	rs80356546
ensembl	rs80356546
geneview	rs80356546
scholar	rs80356546
google	rs80356546
pharmgkb	rs80356546
gwascentral	rs80356546
openSNP	rs80356546
23andMe	rs80356546
SNPshot	rs80356546
SNPdbe	rs80356546
MSV3d	rs80356546
GWAS Ctlg	rs80356546

Max Magnitude

0

OMIM	314370
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80356546(G;G)
Alt	rs80356546(G;G)
Reference	Rs80356546(A;A)
Significance	Pathogenic
Disease	Arthrogryposis multiplex congenita
Variation	info
Gene	UBA1 INE1
CLNDBN	Arthrogryposis multiplex congenita, distal, X-linked
Reversed	0
HGVS	NC_000023.10:g.47065410A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010435.4,

[PMID 18179898] Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.