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

rs387907148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907148(C;T)
Make rs387907148(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position95517186
GeneTTC37
is asnp
is mentioned by
dbSNPrs387907148
ebirs387907148
HLIrs387907148
Exacrs387907148
Varsomers387907148
Maprs387907148
PheGenIrs387907148
hapmaprs387907148
1000 genomesrs387907148
hgdprs387907148
ensemblrs387907148
gopubmedrs387907148
geneviewrs387907148
scholarrs387907148
googlers387907148
pharmgkbrs387907148
gwascentralrs387907148
openSNPrs387907148
23andMers387907148
23andMe allrs387907148
SNP Nexus

SNPshotrs387907148
SNPdbers387907148
MSV3drs387907148
GWAS Ctlgrs387907148
Max Magnitude0
ClinVar
Risk rs387907148(T;T)
Alt rs387907148(T;T)
Reference rs387907148(C;C)
Significance Pathogenic
Disease Trichohepatoenteric syndrome
Variation info
Gene TTC37
CLNDBN Trichohepatoenteric syndrome
Reversed 1
HGVS NC_000005.9:g.94852890G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024233.3,