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rs121912993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912993(G;G)
Make rs121912993(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position7565442
GeneDSP
is asnp
is mentioned by
dbSNPrs121912993
ebirs121912993
HLIrs121912993
Exacrs121912993
Varsomers121912993
Maprs121912993
PheGenIrs121912993
hapmaprs121912993
1000 genomesrs121912993
hgdprs121912993
ensemblrs121912993
gopubmedrs121912993
geneviewrs121912993
scholarrs121912993
googlers121912993
pharmgkbrs121912993
gwascentralrs121912993
openSNPrs121912993
23andMers121912993
23andMe allrs121912993
SNP Nexus

SNPshotrs121912993
SNPdbers121912993
MSV3drs121912993
GWAS Ctlgrs121912993
Max Magnitude0
OMIM125647
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912993(G;G)
Alt rs121912993(G;G)
Reference rs121912993(T;T)
Significance Pathogenic
Disease Skin fragility woolly hair syndrome
Variation info
Gene DSP
CLNDBN Skin fragility woolly hair syndrome
Reversed 0
HGVS NC_000006.11:g.7565675T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018333.28,