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rs587777749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777749(A;T)
Make rs587777749(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position148086403
GeneSPINK5
is asnp
is mentioned by
dbSNPrs587777749
ebirs587777749
HLIrs587777749
Exacrs587777749
Varsomers587777749
Maprs587777749
PheGenIrs587777749
hapmaprs587777749
1000 genomesrs587777749
hgdprs587777749
ensemblrs587777749
gopubmedrs587777749
geneviewrs587777749
scholarrs587777749
googlers587777749
pharmgkbrs587777749
gwascentralrs587777749
openSNPrs587777749
23andMers587777749
23andMe allrs587777749
SNP Nexus

SNPshotrs587777749
SNPdbers587777749
MSV3drs587777749
GWAS Ctlgrs587777749
Max Magnitude0
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,