rs1057515580

Orientation

plus

Stabilized

plus

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

Make rs1057515580(C;C)

Make rs1057515580(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

183650358

Gene

KLHL24

is a	snp
is	mentioned by
dbSNP	rs1057515580
dbSNP (classic)	rs1057515580
ClinGen	rs1057515580
ebi	rs1057515580
HLI	rs1057515580
Exac	rs1057515580
Gnomad	rs1057515580
Varsome	rs1057515580
LitVar	rs1057515580
Map	rs1057515580
PheGenI	rs1057515580
Biobank	rs1057515580
1000 genomes	rs1057515580
hgdp	rs1057515580
ensembl	rs1057515580
geneview	rs1057515580
scholar	rs1057515580
google	rs1057515580
pharmgkb	rs1057515580
gwascentral	rs1057515580
openSNP	rs1057515580
23andMe	rs1057515580
SNPshot	rs1057515580
SNPdbe	rs1057515580
MSV3d	rs1057515580
GWAS Ctlg	rs1057515580

Max Magnitude

0

ClinVar
Risk	rs1057515580(C;C)
Alt	rs1057515580(C;C)
Reference	Rs1057515580(T;T)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex Epidermolysis bullosa simplex
Variation	info
Gene	KLHL24
CLNDBN	Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, generalized, with scarring and hair loss
Reversed	0
HGVS	NC_000003.11:g.183368146T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000408918.1, RCV000415575.1,