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

rs35034250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35034250(C;T)
Make rs35034250(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645027
GeneBTD
is asnp
is mentioned by
dbSNPrs35034250
ebirs35034250
HLIrs35034250
Exacrs35034250
Varsomers35034250
Maprs35034250
PheGenIrs35034250
hapmaprs35034250
1000 genomesrs35034250
hgdprs35034250
ensemblrs35034250
gopubmedrs35034250
geneviewrs35034250
scholarrs35034250
googlers35034250
pharmgkbrs35034250
gwascentralrs35034250
openSNPrs35034250
23andMers35034250
23andMe allrs35034250
SNP Nexus

SNPshotrs35034250
SNPdbers35034250
MSV3drs35034250
GWAS Ctlgrs35034250
GMAF0.008724
Max Magnitude0
Also known as BTD P391S.

According to http://www.arup.utah.edu/database/BTD/BTD_display.php this variant is benign. It has been observed as pathogenic only in combination with other variants.


GET Evidence
BTD-P391S
aa_change Pro391Ser
aa_change_short P391S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0170106
summary



ClinVar
Risk rs35034250(T;T)
Alt rs35034250(T;T)
Reference rs35034250(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686534C>T
CLNSRC ARUP BTD
CLNACC RCV000021984.1, RCV000021985.1,