rs121908387

Orientation

plus

Stabilized

plus

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

Make rs121908387(C;T)

Make rs121908387(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

148120063

Gene

SPINK5

is a	snp
is	mentioned by
dbSNP	rs121908387
dbSNP (classic)	rs121908387
ClinGen	rs121908387
ebi	rs121908387
HLI	rs121908387
Exac	rs121908387
Gnomad	rs121908387
Varsome	rs121908387
LitVar	rs121908387
Map	rs121908387
PheGenI	rs121908387
Biobank	rs121908387
1000 genomes	rs121908387
hgdp	rs121908387
ensembl	rs121908387
geneview	rs121908387
scholar	rs121908387
google	rs121908387
pharmgkb	rs121908387
gwascentral	rs121908387
openSNP	rs121908387
23andMe	rs121908387
SNPshot	rs121908387
SNPdbe	rs121908387
MSV3d	rs121908387
GWAS Ctlg	rs121908387

Max Magnitude

0

OMIM	605010
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908387(T;T)
Alt	rs121908387(T;T)
Reference	Rs121908387(C;C)
Significance	Pathogenic
Disease	Netherton syndrome
Variation	info
Gene	SPINK5
CLNDBN	Netherton syndrome
Reversed	0
HGVS	NC_000005.9:g.147499626C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005582.3,