rs398122902

Orientation

minus

Stabilized

minus

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

Make rs398122902(-;-)

Make rs398122902(-;GGCCTGT)

Reference

GRCh38 38.1/141

Chromosome

14

Position

24254970

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs398122902
dbSNP (classic)	rs398122902
ClinGen	rs398122902
ebi	rs398122902
HLI	rs398122902
Exac	rs398122902
Gnomad	rs398122902
Varsome	rs398122902
LitVar	rs398122902
Map	rs398122902
PheGenI	rs398122902
Biobank	rs398122902
1000 genomes	rs398122902
hgdp	rs398122902
ensembl	rs398122902
geneview	rs398122902
scholar	rs398122902
google	rs398122902
pharmgkb	rs398122902
gwascentral	rs398122902
openSNP	rs398122902
23andMe	rs398122902
SNPshot	rs398122902
SNPdbe	rs398122902
MSV3d	rs398122902
GWAS Ctlg	rs398122902

Max Magnitude

0

ClinVar
Risk	rs398122902(-;-)
Alt	rs398122902(-;-)
Reference	Rs398122902(GGCCTGT;GGCCTGT)
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.24724176_24724182delACAGGCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032732.17,