rs121918725

Orientation

minus

Stabilized

minus

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

Make rs121918725(A;A)

Make rs121918725(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24259984

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs121918725
dbSNP (classic)	rs121918725
ClinGen	rs121918725
ebi	rs121918725
HLI	rs121918725
Exac	rs121918725
Gnomad	rs121918725
Varsome	rs121918725
LitVar	rs121918725
Map	rs121918725
PheGenI	rs121918725
Biobank	rs121918725
1000 genomes	rs121918725
hgdp	rs121918725
ensembl	rs121918725
geneview	rs121918725
scholar	rs121918725
google	rs121918725
pharmgkb	rs121918725
gwascentral	rs121918725
openSNP	rs121918725
23andMe	rs121918725
SNPshot	rs121918725
SNPdbe	rs121918725
MSV3d	rs121918725
GWAS Ctlg	rs121918725

Max Magnitude

0

OMIM	190195
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121918725(A;A)
Alt	rs121918725(A;A)
Reference	Rs121918725(G;G)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 1 not provided
Variation	info
Gene	TGM1
CLNDBN	Autosomal recessive congenital ichthyosis 1 not provided
Reversed	1
HGVS	NC_000014.8:g.24729190C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013315.18, RCV000439800.1,