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rs387907308

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907308(A;G)
Make rs387907308(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50744304
GeneNIN
is asnp
is mentioned by
dbSNPrs387907308
ebirs387907308
HLIrs387907308
Exacrs387907308
Varsomers387907308
Maprs387907308
PheGenIrs387907308
hapmaprs387907308
1000 genomesrs387907308
hgdprs387907308
ensemblrs387907308
gopubmedrs387907308
geneviewrs387907308
scholarrs387907308
googlers387907308
pharmgkbrs387907308
gwascentralrs387907308
openSNPrs387907308
23andMers387907308
23andMe allrs387907308
SNP Nexus

SNPshotrs387907308
SNPdbers387907308
MSV3drs387907308
GWAS Ctlgrs387907308
Max Magnitude0
ClinVar
Risk rs387907308(G;G)
Alt rs387907308(G;G)
Reference rs387907308(A;A)
Significance Pathogenic
Disease Seckel syndrome 7
Variation info
Gene NIN
CLNDBN Seckel syndrome 7
Reversed 1
HGVS NC_000014.8:g.51211022T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000030830.3,