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rs786204672

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204672(-;-)
Make rs786204672(-;ATCC)
Make rs786204672(ATCC;ATCC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position15635584
GeneBTD
is asnp
is mentioned by
dbSNPrs786204672
ebirs786204672
HLIrs786204672
Exacrs786204672
Varsomers786204672
Maprs786204672
PheGenIrs786204672
hapmaprs786204672
1000 genomesrs786204672
hgdprs786204672
ensemblrs786204672
gopubmedrs786204672
geneviewrs786204672
scholarrs786204672
googlers786204672
pharmgkbrs786204672
gwascentralrs786204672
openSNPrs786204672
23andMers786204672
23andMe allrs786204672
SNP Nexus

SNPshotrs786204672
SNPdbers786204672
MSV3drs786204672
GWAS Ctlgrs786204672
Max Magnitude0
ClinVar
Risk rs786204672(CATC;CATC)
Alt rs786204672(CATC;CATC)
Reference rs786204672(;)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677088_15677091dupATCC
CLNSRC Counsyl
CLNACC RCV000169475.1,