rs1057524917

Orientation

plus

Stabilized

plus

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

Make rs1057524917(C;C)

Make rs1057524917(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

29125411

Gene

KREMEN1

is a	snp
is	mentioned by
dbSNP	rs1057524917
dbSNP (classic)	rs1057524917
ClinGen	rs1057524917
ebi	rs1057524917
HLI	rs1057524917
Exac	rs1057524917
Gnomad	rs1057524917
Varsome	rs1057524917
LitVar	rs1057524917
Map	rs1057524917
PheGenI	rs1057524917
Biobank	rs1057524917
1000 genomes	rs1057524917
hgdp	rs1057524917
ensembl	rs1057524917
geneview	rs1057524917
scholar	rs1057524917
google	rs1057524917
pharmgkb	rs1057524917
gwascentral	rs1057524917
openSNP	rs1057524917
23andMe	rs1057524917
SNPshot	rs1057524917
SNPdbe	rs1057524917
MSV3d	rs1057524917
GWAS Ctlg	rs1057524917

Max Magnitude

0

ClinVar
Risk	rs1057524917(C;C)
Alt	rs1057524917(C;C)
Reference	Rs1057524917(T;T)
Significance	Pathogenic
Disease	Ectodermal dysplasia 13
Variation	info
Gene	KREMEN1
CLNDBN	Ectodermal dysplasia 13, hair/tooth type
Reversed	0
HGVS	NC_000022.10:g.29521399T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000445554.1,