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rs121912995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912995(C;T)
Make rs121912995(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position7571928
GeneDSP
is asnp
is mentioned by
dbSNPrs121912995
ebirs121912995
HLIrs121912995
Exacrs121912995
Varsomers121912995
Maprs121912995
PheGenIrs121912995
hapmaprs121912995
1000 genomesrs121912995
hgdprs121912995
ensemblrs121912995
gopubmedrs121912995
geneviewrs121912995
scholarrs121912995
googlers121912995
pharmgkbrs121912995
gwascentralrs121912995
openSNPrs121912995
23andMers121912995
23andMe allrs121912995
SNP Nexus

SNPshotrs121912995
SNPdbers121912995
MSV3drs121912995
GWAS Ctlgrs121912995
Max Magnitude0
OMIM125647
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912995(T;T)
Alt rs121912995(T;T)
Reference rs121912995(C;C)
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.7572161C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018336.28,