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rs61758388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61758388(G;T)
Make rs61758388(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position17470454
GeneXYLT1
is asnp
is mentioned by
dbSNPrs61758388
ebirs61758388
HLIrs61758388
Exacrs61758388
Varsomers61758388
Maprs61758388
PheGenIrs61758388
hapmaprs61758388
1000 genomesrs61758388
hgdprs61758388
ensemblrs61758388
gopubmedrs61758388
geneviewrs61758388
scholarrs61758388
googlers61758388
pharmgkbrs61758388
gwascentralrs61758388
openSNPrs61758388
23andMers61758388
23andMe allrs61758388
SNP Nexus

SNPshotrs61758388
SNPdbers61758388
MSV3drs61758388
GWAS Ctlgrs61758388
GMAF0.01699
Max Magnitude0
OMIM608124
Desc
Variant0001
Relatedalso
ClinVar
Risk rs61758388(T;T)
Alt rs61758388(T;T)
Reference rs61758388(G;G)
Significance Other
Disease Pseudoxanthoma elasticum
Variation info
Gene XYLT1
CLNDBN Pseudoxanthoma elasticum, modifier of severity of
Reversed 1
HGVS NC_000016.9:g.17564311C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002643.3,


GET Evidence
XYLT1-A115S
aa_change Ala115Ser
aa_change_short A115S
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0165966
summary