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rs786200941

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786200941(-;-)
Make rs786200941(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position1232866
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs786200941
ebirs786200941
HLIrs786200941
Exacrs786200941
Varsomers786200941
Maprs786200941
PheGenIrs786200941
hapmaprs786200941
1000 genomesrs786200941
hgdprs786200941
ensemblrs786200941
gopubmedrs786200941
geneviewrs786200941
scholarrs786200941
googlers786200941
pharmgkbrs786200941
gwascentralrs786200941
openSNPrs786200941
23andMers786200941
23andMe allrs786200941
SNP Nexus

SNPshotrs786200941
SNPdbers786200941
MSV3drs786200941
GWAS Ctlgrs786200941
Max Magnitude0
ClinVar
Risk rs786200941(;)
Alt rs786200941(;)
Reference rs786200941(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene B3GALT6 SDF4
CLNDBN Ehlers-Danlos syndrome, progeroid type, 2
Reversed 1
HGVS NC_000001.10:g.1168246delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000054398.4,