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rs187063864

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs187063864(C;T)
Make rs187063864(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position177607309
GeneB4GALT7
is asnp
is mentioned by
dbSNPrs187063864
ebirs187063864
HLIrs187063864
Exacrs187063864
Varsomers187063864
Maprs187063864
PheGenIrs187063864
hapmaprs187063864
1000 genomesrs187063864
hgdprs187063864
ensemblrs187063864
gopubmedrs187063864
geneviewrs187063864
scholarrs187063864
googlers187063864
pharmgkbrs187063864
gwascentralrs187063864
openSNPrs187063864
23andMers187063864
23andMe allrs187063864
SNP Nexus

SNPshotrs187063864
SNPdbers187063864
MSV3drs187063864
GWAS Ctlgrs187063864
Max Magnitude0
ClinVar
Risk rs187063864(T;T)
Alt rs187063864(T;T)
Reference rs187063864(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.177034310C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239499.1,