rs143473912

Orientation

plus

Stabilized

plus

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

Make rs143473912(A;A)

Make rs143473912(A;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24259744

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs143473912
dbSNP (classic)	rs143473912
ClinGen	rs143473912
ebi	rs143473912
HLI	rs143473912
Exac	rs143473912
Gnomad	rs143473912
Varsome	rs143473912
LitVar	rs143473912
Map	rs143473912
PheGenI	rs143473912
Biobank	rs143473912
1000 genomes	rs143473912
hgdp	rs143473912
ensembl	rs143473912
geneview	rs143473912
scholar	rs143473912
google	rs143473912
pharmgkb	rs143473912
gwascentral	rs143473912
openSNP	rs143473912
23andMe	rs143473912
SNPshot	rs143473912
SNPdbe	rs143473912
MSV3d	rs143473912
GWAS Ctlg	rs143473912

Max Magnitude

0

ClinVar
Risk	rs143473912(A;A) rs143473912(T;T)
Alt	rs143473912(A;A) rs143473912(T;T)
Reference	Rs143473912(C;C)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 1 not provided
Variation	info
Gene	TGM1
CLNDBN	Autosomal recessive congenital ichthyosis 1 not provided
Reversed	0
HGVS	NC_000014.8:g.24728950C>A; NC_000014.8:g.24728950C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032729.25, RCV000413918.1, RCV000032728.24,