rs58852768

Orientation

minus

Stabilized

minus

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

Make rs58852768(C;T)

Make rs58852768(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

40822120

Gene	KRT10, TMEM99

is a	snp
is	mentioned by
dbSNP	rs58852768
dbSNP (classic)	rs58852768
ClinGen	rs58852768
ebi	rs58852768
HLI	rs58852768
Exac	rs58852768
Gnomad	rs58852768
Varsome	rs58852768
LitVar	rs58852768
Map	rs58852768
PheGenI	rs58852768
Biobank	rs58852768
1000 genomes	rs58852768
hgdp	rs58852768
ensembl	rs58852768
geneview	rs58852768
scholar	rs58852768
google	rs58852768
pharmgkb	rs58852768
gwascentral	rs58852768
openSNP	rs58852768
23andMe	rs58852768
SNPshot	rs58852768
SNPdbe	rs58852768
MSV3d	rs58852768
GWAS Ctlg	rs58852768

Max Magnitude

0

OMIM	148080
Desc
Variant	0010
Related	also

ClinVar
Risk	rs58852768(A;A) rs58852768(G;G) rs58852768(T;T)
Alt	rs58852768(A;A) rs58852768(G;G) rs58852768(T;T)
Reference	Rs58852768(C;C)
Significance	Pathogenic
Disease	Bullous ichthyosiform erythroderma not provided
Variation	info
Gene	KRT10 TMEM99
CLNDBN	Bullous ichthyosiform erythroderma not provided
Reversed	1
HGVS	NC_000017.10:g.38978372G>A; NC_000017.10:g.38978372G>C; NC_000017.10:g.38978372G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015677.21, RCV000056496.1, RCV000057504.1, RCV000056495.1,