Have questions? Visit https://www.reddit.com/r/SNPedia

rs750088530

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs750088530(-;-)
Make rs750088530(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position1232631
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs750088530
ebirs750088530
HLIrs750088530
Exacrs750088530
Varsomers750088530
Maprs750088530
PheGenIrs750088530
hapmaprs750088530
1000 genomesrs750088530
hgdprs750088530
ensemblrs750088530
gopubmedrs750088530
geneviewrs750088530
scholarrs750088530
googlers750088530
pharmgkbrs750088530
gwascentralrs750088530
openSNPrs750088530
23andMers750088530
23andMe allrs750088530
SNP Nexus

SNPshotrs750088530
SNPdbers750088530
MSV3drs750088530
GWAS Ctlgrs750088530
Max Magnitude0
ClinVar
Risk rs750088530(;)
Alt rs750088530(;)
Reference rs750088530(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene B3GALT6 SDF4
CLNDBN Ehlers-Danlos syndrome, progeroid type, 2
Reversed 0
HGVS NC_000001.10:g.1168011delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000054396.4,