rs398122904

Orientation

minus

Stabilized

minus

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

Make rs398122904(C;T)

Make rs398122904(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24249489

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs398122904
dbSNP (classic)	rs398122904
ClinGen	rs398122904
ebi	rs398122904
HLI	rs398122904
Exac	rs398122904
Gnomad	rs398122904
Varsome	rs398122904
LitVar	rs398122904
Map	rs398122904
PheGenI	rs398122904
Biobank	rs398122904
1000 genomes	rs398122904
hgdp	rs398122904
ensembl	rs398122904
geneview	rs398122904
scholar	rs398122904
google	rs398122904
pharmgkb	rs398122904
gwascentral	rs398122904
openSNP	rs398122904
23andMe	rs398122904
SNPshot	rs398122904
SNPdbe	rs398122904
MSV3d	rs398122904
GWAS Ctlg	rs398122904

Max Magnitude

0

ClinVar
Risk	rs398122904(T;T)
Alt	rs398122904(T;T)
Reference	Rs398122904(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.24718695G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032734.17,