rs397518452

Orientation

plus

Stabilized

plus

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

Make rs397518452(A;T)

Make rs397518452(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

54283845

Gene

HNRNPA1

is a	snp
is	mentioned by
dbSNP	rs397518452
dbSNP (classic)	rs397518452
ClinGen	rs397518452
ebi	rs397518452
HLI	rs397518452
Exac	rs397518452
Gnomad	rs397518452
Varsome	rs397518452
LitVar	rs397518452
Map	rs397518452
PheGenI	rs397518452
Biobank	rs397518452
1000 genomes	rs397518452
hgdp	rs397518452
ensembl	rs397518452
geneview	rs397518452
scholar	rs397518452
google	rs397518452
pharmgkb	rs397518452
gwascentral	rs397518452
openSNP	rs397518452
23andMe	rs397518452
SNPshot	rs397518452
SNPdbe	rs397518452
MSV3d	rs397518452
GWAS Ctlg	rs397518452

Max Magnitude

0

ClinVar
Risk	rs397518452(T;T)
Alt	rs397518452(T;T)
Reference	Rs397518452(A;A)
Significance	Pathogenic
Disease	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3
Variation	info
Gene	HNRNPA1
CLNDBN	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3
Reversed	0
HGVS	NC_000012.11:g.54677629A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000055649.29,