rs147962513

Orientation

plus

Stabilized

plus

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

Make rs147962513(A;G)

Make rs147962513(G;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

52571381

Gene

KRT74

is a	snp
is	mentioned by
dbSNP	rs147962513
dbSNP (classic)	rs147962513
ClinGen	rs147962513
ebi	rs147962513
HLI	rs147962513
Exac	rs147962513
Gnomad	rs147962513
Varsome	rs147962513
LitVar	rs147962513
Map	rs147962513
PheGenI	rs147962513
Biobank	rs147962513
1000 genomes	rs147962513
hgdp	rs147962513
ensembl	rs147962513
geneview	rs147962513
scholar	rs147962513
google	rs147962513
pharmgkb	rs147962513
gwascentral	rs147962513
openSNP	rs147962513
23andMe	rs147962513
SNPshot	rs147962513
SNPdbe	rs147962513
MSV3d	rs147962513
GWAS Ctlg	rs147962513

Max Magnitude

0

ClinVar
Risk	rs147962513(G;G)
Alt	rs147962513(G;G)
Reference	Rs147962513(A;A)
Significance	Pathogenic
Disease	Ectodermal dysplasia Ectodermal dysplasia 7 not provided
Variation	info
Gene	KRT74
CLNDBN	Ectodermal dysplasia, 'pure' hair-nail type Ectodermal dysplasia 7, hair/nail type not provided
Reversed	0
HGVS	NC_000012.11:g.52965165A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000128478.1, RCV000128640.3, RCV000437328.1,