rs41295338

Orientation

minus

Stabilized

minus

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

Make rs41295338(A;A)

Make rs41295338(A;C)

Reference

GRCh38 38.1/142

Chromosome

14

Position

24262228

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs41295338
dbSNP (classic)	rs41295338
ClinGen	rs41295338
ebi	rs41295338
HLI	rs41295338
Exac	rs41295338
Gnomad	rs41295338
Varsome	rs41295338
LitVar	rs41295338
Map	rs41295338
PheGenI	rs41295338
Biobank	rs41295338
1000 genomes	rs41295338
hgdp	rs41295338
ensembl	rs41295338
geneview	rs41295338
scholar	rs41295338
google	rs41295338
pharmgkb	rs41295338
gwascentral	rs41295338
openSNP	rs41295338
23andMe	rs41295338
SNPshot	rs41295338
SNPdbe	rs41295338
MSV3d	rs41295338
GWAS Ctlg	rs41295338

GMAF

0.003214

Max Magnitude

0

OMIM	190195
Desc
Variant	0003
Related	also

ClinVar
Risk	rs41295338(A;A) rs41295338(G;G)
Alt	rs41295338(A;A) rs41295338(G;G)
Reference	Rs41295338(C;C)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 1 not specified
Variation	info
Gene	TGM1
CLNDBN	Autosomal recessive congenital ichthyosis 1 not specified
Reversed	1
HGVS	NC_000014.8:g.24731434G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013298.25, RCV000252909.2,