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rs387907164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907164(C;C)
Make rs387907164(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1348185
GeneUVSSA
is asnp
is mentioned by
dbSNPrs387907164
ebirs387907164
HLIrs387907164
Exacrs387907164
Varsomers387907164
Maprs387907164
PheGenIrs387907164
hapmaprs387907164
1000 genomesrs387907164
hgdprs387907164
ensemblrs387907164
gopubmedrs387907164
geneviewrs387907164
scholarrs387907164
googlers387907164
pharmgkbrs387907164
gwascentralrs387907164
openSNPrs387907164
23andMers387907164
23andMe allrs387907164
SNP Nexus

SNPshotrs387907164
SNPdbers387907164
MSV3drs387907164
GWAS Ctlgrs387907164
Max Magnitude0
ClinVar
Risk rs387907164(C;C)
Alt rs387907164(C;C)
Reference rs387907164(T;T)
Significance Pathogenic
Disease UV-sensitive syndrome 3
Variation info
Gene UVSSA
CLNDBN UV-sensitive syndrome 3
Reversed 0
HGVS NC_000004.11:g.1341973T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024279.2,