rs753798494

Orientation

plus

Stabilized

plus

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

Make rs753798494(A;A)

Make rs753798494(A;T)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

24259778

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs753798494
dbSNP (classic)	rs753798494
ClinGen	rs753798494
ebi	rs753798494
HLI	rs753798494
Exac	rs753798494
Gnomad	rs753798494
Varsome	rs753798494
LitVar	rs753798494
Map	rs753798494
PheGenI	rs753798494
Biobank	rs753798494
1000 genomes	rs753798494
hgdp	rs753798494
ensembl	rs753798494
geneview	rs753798494
scholar	rs753798494
google	rs753798494
pharmgkb	rs753798494
gwascentral	rs753798494
openSNP	rs753798494
23andMe	rs753798494
SNPshot	rs753798494
SNPdbe	rs753798494
MSV3d	rs753798494
GWAS Ctlg	rs753798494

Max Magnitude

0

ClinVar
Risk	rs753798494(A;A)
Alt	rs753798494(A;A)
Reference	Rs753798494(T;T)
Significance	Probable-Pathogenic
Disease	Autosomal recessive congenital ichthyosis 1
Variation	info
Gene	TGM1
CLNDBN	Autosomal recessive congenital ichthyosis 1
Reversed	0
HGVS	NC_000014.8:g.24728984T>A
CLNSRC
CLNACC	RCV000235007.1,