rs80356545

Orientation

plus

Stabilized

plus

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

Make rs80356545(G;T)

Make rs80356545(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

47205989

Gene	INE1, LOC105373194, UBA1

is a	snp
is	mentioned by
dbSNP	rs80356545
dbSNP (classic)	rs80356545
ClinGen	rs80356545
ebi	rs80356545
HLI	rs80356545
Exac	rs80356545
Gnomad	rs80356545
Varsome	rs80356545
LitVar	rs80356545
Map	rs80356545
PheGenI	rs80356545
Biobank	rs80356545
1000 genomes	rs80356545
hgdp	rs80356545
ensembl	rs80356545
geneview	rs80356545
scholar	rs80356545
google	rs80356545
pharmgkb	rs80356545
gwascentral	rs80356545
openSNP	rs80356545
23andMe	rs80356545
SNPshot	rs80356545
SNPdbe	rs80356545
MSV3d	rs80356545
GWAS Ctlg	rs80356545

Max Magnitude

0

OMIM	314370
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80356545(T;T)
Alt	rs80356545(T;T)
Reference	Rs80356545(G;G)
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.47065388G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010434.2,

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