rs112292549

Orientation

plus

Stabilized

plus

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

Make rs112292549(A;A)

Make rs112292549(A;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

43260151

Gene

TGM5

is a	snp
is	mentioned by
dbSNP	rs112292549
dbSNP (classic)	rs112292549
ClinGen	rs112292549
ebi	rs112292549
HLI	rs112292549
Exac	rs112292549
Gnomad	rs112292549
Varsome	rs112292549
LitVar	rs112292549
Map	rs112292549
PheGenI	rs112292549
Biobank	rs112292549
1000 genomes	rs112292549
hgdp	rs112292549
ensembl	rs112292549
geneview	rs112292549
scholar	rs112292549
google	rs112292549
pharmgkb	rs112292549
gwascentral	rs112292549
openSNP	rs112292549
23andMe	rs112292549
SNPshot	rs112292549
SNPdbe	rs112292549
MSV3d	rs112292549
GWAS Ctlg	rs112292549

GMAF

0.001377

Max Magnitude

0

OMIM	603805
Desc
Variant	0001
Related	also

ClinVar
Risk	rs112292549(A;A)
Alt	rs112292549(A;A)
Reference	Rs112292549(C;C)
Significance	Pathogenic
Disease	Peeling skin syndrome not provided Peeling skin syndrome
Variation	info
Gene	TGM5
CLNDBN	Peeling skin syndrome, acral type not provided Peeling skin syndrome
Reversed	0
HGVS	NC_000015.9:g.43552349C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006411.3, RCV000340380.1, RCV000379636.1,