rs35312232

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	0	Likely to be benign
(G;G)	0	common in clinvar

Make rs35312232(A;A)

Reference

GRCh38 38.1/142

Chromosome

14

Position

24255457

Gene

TGM1

is a	snp
is	mentioned by
dbSNP	rs35312232
dbSNP (classic)	rs35312232
ClinGen	rs35312232
ebi	rs35312232
HLI	rs35312232
Exac	rs35312232
Gnomad	rs35312232
Varsome	rs35312232
LitVar	rs35312232
Map	rs35312232
PheGenI	rs35312232
Biobank	rs35312232
1000 genomes	rs35312232
hgdp	rs35312232
ensembl	rs35312232
geneview	rs35312232
scholar	rs35312232
google	rs35312232
pharmgkb	rs35312232
gwascentral	rs35312232
openSNP	rs35312232
23andMe	rs35312232
SNPshot	rs35312232
SNPdbe	rs35312232
MSV3d	rs35312232
GWAS Ctlg	rs35312232

GMAF

0.006887

Max Magnitude

0

OMIM	190195
Desc
Variant	0018
Related	also

ClinVar
Risk	rs35312232(A;A)
Alt	rs35312232(A;A)
Reference	Rs35312232(G;G)
Significance	Other
Disease	Autosomal recessive congenital ichthyosis 1 not specified
Variation	info
Gene	TGM1
CLNDBN	Autosomal recessive congenital ichthyosis 1 not specified
Reversed	1
HGVS	NC_000014.8:g.24724663C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013319.26, RCV000246360.2,