rs121918730

Orientation

minus

Stabilized

minus

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

Make rs121918730(A;C)

Make rs121918730(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24259950

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs121918730
dbSNP (classic)	rs121918730
ClinGen	rs121918730
ebi	rs121918730
HLI	rs121918730
Exac	rs121918730
Gnomad	rs121918730
Varsome	rs121918730
LitVar	rs121918730
Map	rs121918730
PheGenI	rs121918730
Biobank	rs121918730
1000 genomes	rs121918730
hgdp	rs121918730
ensembl	rs121918730
geneview	rs121918730
scholar	rs121918730
google	rs121918730
pharmgkb	rs121918730
gwascentral	rs121918730
openSNP	rs121918730
23andMe	rs121918730
SNPshot	rs121918730
SNPdbe	rs121918730
MSV3d	rs121918730
GWAS Ctlg	rs121918730

Max Magnitude

0

OMIM	190195
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121918730(C;C) rs121918730(G;G)
Alt	rs121918730(C;C) rs121918730(G;G)
Reference	Rs121918730(A;A)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 1
Variation	info
Gene	TGM1
CLNDBN	Autosomal recessive congenital ichthyosis 1
Reversed	1
HGVS	NC_000014.8:g.24729156T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013321.24,