rs121918728

Orientation

minus

Stabilized

minus

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

Make rs121918728(C;G)

Make rs121918728(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24261724

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs121918728
dbSNP (classic)	rs121918728
ClinGen	rs121918728
ebi	rs121918728
HLI	rs121918728
Exac	rs121918728
Gnomad	rs121918728
Varsome	rs121918728
LitVar	rs121918728
Map	rs121918728
PheGenI	rs121918728
Biobank	rs121918728
1000 genomes	rs121918728
hgdp	rs121918728
ensembl	rs121918728
geneview	rs121918728
scholar	rs121918728
google	rs121918728
pharmgkb	rs121918728
gwascentral	rs121918728
openSNP	rs121918728
23andMe	rs121918728
SNPshot	rs121918728
SNPdbe	rs121918728
MSV3d	rs121918728
GWAS Ctlg	rs121918728

Max Magnitude

0

OMIM	190195
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121918728(G;G)
Alt	rs121918728(G;G)
Reference	Rs121918728(C;C)
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.24730930G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013300.24,