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rs753594601

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs753594601(A;A)
Make rs753594601(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position177608540
GeneB4GALT7
is asnp
is mentioned by
dbSNPrs753594601
ebirs753594601
HLIrs753594601
Exacrs753594601
Varsomers753594601
Maprs753594601
PheGenIrs753594601
hapmaprs753594601
1000 genomesrs753594601
hgdprs753594601
ensemblrs753594601
gopubmedrs753594601
geneviewrs753594601
scholarrs753594601
googlers753594601
pharmgkbrs753594601
gwascentralrs753594601
openSNPrs753594601
23andMers753594601
23andMe allrs753594601
SNP Nexus

SNPshotrs753594601
SNPdbers753594601
MSV3drs753594601
GWAS Ctlgrs753594601
Max Magnitude0
ClinVar
Risk rs753594601(A;A)
Alt rs753594601(A;A)
Reference rs753594601(G;G)
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.177035541G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239469.1,