rs121918718

Orientation

minus

Stabilized

minus

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

Make rs121918718(A;A)

Make rs121918718(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24261778

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs121918718
dbSNP (classic)	rs121918718
ClinGen	rs121918718
ebi	rs121918718
HLI	rs121918718
Exac	rs121918718
Gnomad	rs121918718
Varsome	rs121918718
LitVar	rs121918718
Map	rs121918718
PheGenI	rs121918718
Biobank	rs121918718
1000 genomes	rs121918718
hgdp	rs121918718
ensembl	rs121918718
geneview	rs121918718
scholar	rs121918718
google	rs121918718
pharmgkb	rs121918718
gwascentral	rs121918718
openSNP	rs121918718
23andMe	rs121918718
SNPshot	rs121918718
SNPdbe	rs121918718
MSV3d	rs121918718
GWAS Ctlg	rs121918718

Max Magnitude

0

OMIM	190195
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918718(A;A)
Alt	rs121918718(A;A)
Reference	Rs121918718(G;G)
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.24730984C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013304.23,