rs397514524

Orientation

minus

Stabilized

minus

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

Make rs397514524(C;T)

Make rs397514524(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24261827

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs397514524
dbSNP (classic)	rs397514524
ClinGen	rs397514524
ebi	rs397514524
HLI	rs397514524
Exac	rs397514524
Gnomad	rs397514524
Varsome	rs397514524
LitVar	rs397514524
Map	rs397514524
PheGenI	rs397514524
Biobank	rs397514524
1000 genomes	rs397514524
hgdp	rs397514524
ensembl	rs397514524
geneview	rs397514524
scholar	rs397514524
google	rs397514524
pharmgkb	rs397514524
gwascentral	rs397514524
openSNP	rs397514524
23andMe	rs397514524
SNPshot	rs397514524
SNPdbe	rs397514524
MSV3d	rs397514524
GWAS Ctlg	rs397514524

Max Magnitude

0

ClinVar
Risk	rs397514524(T;T)
Alt	rs397514524(T;T)
Reference	Rs397514524(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.24731033G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032726.26,