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rs35269064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(T;T) likely miscall in Ancestry V2.0 datasets; otherwise, see ClinVar information
Make rs35269064(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position130458549
GeneASS1
is asnp
is mentioned by
dbSNPrs35269064
ebirs35269064
HLIrs35269064
Exacrs35269064
Varsomers35269064
Maprs35269064
PheGenIrs35269064
hapmaprs35269064
1000 genomesrs35269064
hgdprs35269064
ensemblrs35269064
gopubmedrs35269064
geneviewrs35269064
scholarrs35269064
googlers35269064
pharmgkbrs35269064
gwascentralrs35269064
openSNPrs35269064
23andMers35269064
23andMe allrs35269064
SNP Nexus

SNPshotrs35269064
SNPdbers35269064
MSV3drs35269064
GWAS Ctlgrs35269064
GMAF0.004591
Max Magnitude0

As of June 2016, this SNP appears to be prone to miscalling in AncestryDNA V2.0 datasets.

Minor allele should be reclassified as benign according to [PMID 26990548OA-icon.png]

OMIM603470
Desc
Variant0014
Relatedalso


ClinVar
Risk rs35269064(A,T;A,T)
Alt rs35269064(A,T;A,T)
Reference rs35269064(G;G)
Significance Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133333936G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006706.4,



GET Evidence
ASS1-R108L
aa_change Arg108Leu
aa_change_short R108L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00669269
summary