rs199757347

Orientation

plus

Stabilized

plus

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

Make rs199757347(C;T)

Make rs199757347(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

5

Position

148091214

Gene

SPINK5

is a	snp
is	mentioned by
dbSNP	rs199757347
dbSNP (classic)	rs199757347
ClinGen	rs199757347
ebi	rs199757347
HLI	rs199757347
Exac	rs199757347
Gnomad	rs199757347
Varsome	rs199757347
LitVar	rs199757347
Map	rs199757347
PheGenI	rs199757347
Biobank	rs199757347
1000 genomes	rs199757347
hgdp	rs199757347
ensembl	rs199757347
geneview	rs199757347
scholar	rs199757347
google	rs199757347
pharmgkb	rs199757347
gwascentral	rs199757347
openSNP	rs199757347
23andMe	rs199757347
SNPshot	rs199757347
SNPdbe	rs199757347
MSV3d	rs199757347
GWAS Ctlg	rs199757347

Max Magnitude

0

ClinVar
Risk	rs199757347(G;G) rs199757347(T;T)
Alt	rs199757347(G;G) rs199757347(T;T)
Reference	Rs199757347(C;C)
Significance	Pathogenic
Disease	Netherton syndrome
Variation	info
Gene	SPINK5
CLNDBN	Netherton syndrome
Reversed	0
HGVS	NC_000005.9:g.147470777C>T
CLNSRC	Illumina
CLNACC	RCV000371796.1,