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rs121917818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917818(C;C)
Make rs121917818(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position177607505
GeneB4GALT7
is asnp
is mentioned by
dbSNPrs121917818
ebirs121917818
HLIrs121917818
Exacrs121917818
Varsomers121917818
Maprs121917818
PheGenIrs121917818
hapmaprs121917818
1000 genomesrs121917818
hgdprs121917818
ensemblrs121917818
gopubmedrs121917818
geneviewrs121917818
scholarrs121917818
googlers121917818
pharmgkbrs121917818
gwascentralrs121917818
openSNPrs121917818
23andMers121917818
23andMe allrs121917818
SNP Nexus

SNPshotrs121917818
SNPdbers121917818
MSV3drs121917818
GWAS Ctlgrs121917818
Max Magnitude0
ClinVar
Risk rs121917818(C;C)
Alt rs121917818(C;C)
Reference rs121917818(T;T)
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.177034506T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005964.6,