rs397514525

Orientation

minus

Stabilized

minus

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

Make rs397514525(C;T)

Make rs397514525(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24259745

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs397514525
dbSNP (classic)	rs397514525
ClinGen	rs397514525
ebi	rs397514525
HLI	rs397514525
Exac	rs397514525
Gnomad	rs397514525
Varsome	rs397514525
LitVar	rs397514525
Map	rs397514525
PheGenI	rs397514525
Biobank	rs397514525
1000 genomes	rs397514525
hgdp	rs397514525
ensembl	rs397514525
geneview	rs397514525
scholar	rs397514525
google	rs397514525
pharmgkb	rs397514525
gwascentral	rs397514525
openSNP	rs397514525
23andMe	rs397514525
SNPshot	rs397514525
SNPdbe	rs397514525
MSV3d	rs397514525
GWAS Ctlg	rs397514525

Max Magnitude

0

ClinVar
Risk	rs397514525(T;T)
Alt	rs397514525(T;T)
Reference	Rs397514525(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.24728951G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032727.25,