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rs28937869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2.5 carrier for Ehlers-Danlos syndrome
(T;T) 4 Ehlers-Danlos syndrome
ReferenceGRCh38 38.1/141
Chromosome5
Position177608994
GeneB4GALT7
is asnp
is mentioned by
dbSNPrs28937869
ebirs28937869
HLIrs28937869
Exacrs28937869
Varsomers28937869
Maprs28937869
PheGenIrs28937869
hapmaprs28937869
1000 genomesrs28937869
hgdprs28937869
ensemblrs28937869
gopubmedrs28937869
geneviewrs28937869
scholarrs28937869
googlers28937869
pharmgkbrs28937869
gwascentralrs28937869
openSNPrs28937869
23andMers28937869
23andMe allrs28937869
SNP Nexus

SNPshotrs28937869
SNPdbers28937869
MSV3drs28937869
GWAS Ctlgrs28937869
Max Magnitude4
OMIM604327
DescEHLERS-DANLOS SYNDROME, PROGEROID FORM
Variant0003
Relatedalso


ClinVar
Risk rs28937869(T;T)
Alt rs28937869(T;T)
Reference rs28937869(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.177035995C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005965.5,