rs80356547

Orientation

plus

Stabilized

plus

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

Make rs80356547(C;T)

Make rs80356547(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

47206103

Gene	INE1, LOC105373194, UBA1

is a	snp
is	mentioned by
dbSNP	rs80356547
dbSNP (classic)	rs80356547
ClinGen	rs80356547
ebi	rs80356547
HLI	rs80356547
Exac	rs80356547
Gnomad	rs80356547
Varsome	rs80356547
LitVar	rs80356547
Map	rs80356547
PheGenI	rs80356547
Biobank	rs80356547
1000 genomes	rs80356547
hgdp	rs80356547
ensembl	rs80356547
geneview	rs80356547
scholar	rs80356547
google	rs80356547
pharmgkb	rs80356547
gwascentral	rs80356547
openSNP	rs80356547
23andMe	rs80356547
SNPshot	rs80356547
SNPdbe	rs80356547
MSV3d	rs80356547
GWAS Ctlg	rs80356547

Max Magnitude

0

OMIM	314370
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80356547(T;T)
Alt	rs80356547(T;T)
Reference	Rs80356547(C;C)
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.47065502C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010436.2,

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