Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912994

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912994(A;A)
Make rs121912994(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position7574786
GeneDSP
is asnp
is mentioned by
dbSNPrs121912994
ebirs121912994
HLIrs121912994
Exacrs121912994
Varsomers121912994
Maprs121912994
PheGenIrs121912994
hapmaprs121912994
1000 genomesrs121912994
hgdprs121912994
ensemblrs121912994
gopubmedrs121912994
geneviewrs121912994
scholarrs121912994
googlers121912994
pharmgkbrs121912994
gwascentralrs121912994
openSNPrs121912994
23andMers121912994
23andMe allrs121912994
SNP Nexus

SNPshotrs121912994
SNPdbers121912994
MSV3drs121912994
GWAS Ctlgrs121912994
Max Magnitude0
OMIM125647
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912994(A;A)
Alt rs121912994(A;A)
Reference rs121912994(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.7575019T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018334.28,