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rs775029664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs775029664(A;A)
Make rs775029664(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position67811665
GeneDNAJC12
is asnp
is mentioned by
dbSNPrs775029664
dbSNP (classic)rs775029664
ClinGenrs775029664
ebirs775029664
HLIrs775029664
Exacrs775029664
Gnomadrs775029664
Varsomers775029664
LitVarrs775029664
Maprs775029664
PheGenIrs775029664
Biobankrs775029664
1000 genomesrs775029664
hgdprs775029664
ensemblrs775029664
geneviewrs775029664
scholarrs775029664
googlers775029664
pharmgkbrs775029664
gwascentralrs775029664
openSNPrs775029664
23andMers775029664
23andMe allrs775029664
SNPshotrs775029664
SNPdbers775029664
MSV3drs775029664
GWAS Ctlgrs775029664
Max Magnitude0
ClinVar
Risk rs775029664(A;A)
Alt rs775029664(A;A)
Reference Rs775029664(T;T)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene DNAJC12
CLNDBN Hyperphenylalaninemia, mild, non-bh4-deficient
Reversed 0
HGVS NC_000010.10:g.69571423T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000445360.1,