rs886037957

Orientation

plus

Stabilized

plus

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

Make rs886037957(G;T)

Make rs886037957(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

183650359

Gene

KLHL24

is a	snp
is	mentioned by
dbSNP	rs886037957
dbSNP (classic)	rs886037957
ClinGen	rs886037957
ebi	rs886037957
HLI	rs886037957
Exac	rs886037957
Gnomad	rs886037957
Varsome	rs886037957
LitVar	rs886037957
Map	rs886037957
PheGenI	rs886037957
Biobank	rs886037957
1000 genomes	rs886037957
hgdp	rs886037957
ensembl	rs886037957
geneview	rs886037957
scholar	rs886037957
google	rs886037957
pharmgkb	rs886037957
gwascentral	rs886037957
openSNP	rs886037957
23andMe	rs886037957
SNPshot	rs886037957
SNPdbe	rs886037957
MSV3d	rs886037957
GWAS Ctlg	rs886037957

Max Magnitude

0

ClinVar
Risk	rs886037957(A;A) rs886037957(T;T)
Alt	rs886037957(A;A) rs886037957(T;T)
Reference	Rs886037957(G;G)
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.183368147G>A; NC_000003.11:g.183368147G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000258019.1, RCV000415529.1, RCV000258008.1, RCV000415601.1,