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rs199757347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199757347(C;T)
Make rs199757347(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position148091214
GeneSPINK5
is asnp
is mentioned by
dbSNPrs199757347
dbSNP (old)rs199757347
ClinGenrs199757347
ebirs199757347
HLIrs199757347
Exacrs199757347
Gnomadrs199757347
Varsomers199757347
LitVarrs199757347
Maprs199757347
PheGenIrs199757347
Biobankrs199757347
1000 genomesrs199757347
hgdprs199757347
ensemblrs199757347
gopubmedrs199757347
geneviewrs199757347
scholarrs199757347
googlers199757347
pharmgkbrs199757347
gwascentralrs199757347
openSNPrs199757347
23andMers199757347
23andMe allrs199757347
SNPshotrs199757347
SNPdbers199757347
MSV3drs199757347
GWAS Ctlgrs199757347
Max Magnitude0
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,