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rs121917817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917817(A;A)
Make rs121917817(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position177607445
GeneB4GALT7
is asnp
is mentioned by
dbSNPrs121917817
ebirs121917817
HLIrs121917817
Exacrs121917817
Varsomers121917817
Maprs121917817
PheGenIrs121917817
hapmaprs121917817
1000 genomesrs121917817
hgdprs121917817
ensemblrs121917817
gopubmedrs121917817
geneviewrs121917817
scholarrs121917817
googlers121917817
pharmgkbrs121917817
gwascentralrs121917817
openSNPrs121917817
23andMers121917817
23andMe allrs121917817
SNP Nexus

SNPshotrs121917817
SNPdbers121917817
MSV3drs121917817
GWAS Ctlgrs121917817
Max Magnitude0
ClinVar
Risk rs121917817(A;A)
Alt rs121917817(A;A)
Reference rs121917817(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome progeroid type
Variation info
Gene B4GALT7
CLNDBN Ehlers-Danlos syndrome progeroid type
Reversed 0
HGVS NC_000005.9:g.177034446C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005963.6,