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rs6504649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 0 common in complete genomics
Make rs6504649(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50360095
GeneXYLT2
is asnp
is mentioned by
dbSNPrs6504649
ebirs6504649
HLIrs6504649
Exacrs6504649
Varsomers6504649
Maprs6504649
PheGenIrs6504649
hapmaprs6504649
1000 genomesrs6504649
hgdprs6504649
ensemblrs6504649
gopubmedrs6504649
geneviewrs6504649
scholarrs6504649
googlers6504649
pharmgkbrs6504649
gwascentralrs6504649
openSNPrs6504649
23andMers6504649
23andMe allrs6504649
SNP Nexus

SNPshotrs6504649
SNPdbers6504649
MSV3drs6504649
GWAS Ctlgrs6504649
GMAF0.2718
Max Magnitude0
? (C;C) (C;G) (G;G) 28
OMIM608125
Desc
Variant0001
Relatedalso


ClinVar
Risk rs6504649(G,T;G,T)
Alt rs6504649(G,T;G,T)
Reference rs6504649(C;C)
Significance Other
Disease Pseudoxanthoma elasticum
Variation info
Gene XYLT2
CLNDBN Pseudoxanthoma elasticum, modifier of severity of
Reversed 0
HGVS NC_000017.10:g.48437456C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002642.3,



GET Evidence
XYLT2-T801R
aa_change Thr801Arg
aa_change_short T801R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.344459
summary