rs587777749

Orientation

plus

Stabilized

plus

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

Make rs587777749(A;T)

Make rs587777749(T;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

148086403

Gene

SPINK5

is a	snp
is	mentioned by
dbSNP	rs587777749
dbSNP (classic)	rs587777749
ClinGen	rs587777749
ebi	rs587777749
HLI	rs587777749
Exac	rs587777749
Gnomad	rs587777749
Varsome	rs587777749
LitVar	rs587777749
Map	rs587777749
PheGenI	rs587777749
Biobank	rs587777749
1000 genomes	rs587777749
hgdp	rs587777749
ensembl	rs587777749
geneview	rs587777749
scholar	rs587777749
google	rs587777749
pharmgkb	rs587777749
gwascentral	rs587777749
openSNP	rs587777749
23andMe	rs587777749
SNPshot	rs587777749
SNPdbe	rs587777749
MSV3d	rs587777749
GWAS Ctlg	rs587777749

Max Magnitude

0

ClinVar
Risk	rs587777749(T;T)
Alt	rs587777749(T;T)
Reference	Rs587777749(A;A)
Significance	Pathogenic
Disease	Netherton syndrome
Variation	info
Gene	SPINK5
CLNDBN	Netherton syndrome
Reversed	0
HGVS	NC_000005.9:g.147465966A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005583.3,