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rs786200942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGGCCAGCA;TGGCCAGCA) 0 common in clinvar
Make rs786200942(-;-)
Make rs786200942(-;GGCCAGCAT)
Make rs786200942(GGCCAGCAT;GGCCAGCAT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position1232693
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs786200942
dbSNP (old)rs786200942
ClinGenrs786200942
ebirs786200942
HLIrs786200942
Exacrs786200942
Varsomers786200942
Maprs786200942
PheGenIrs786200942
Biobankrs786200942
1000 genomesrs786200942
hgdprs786200942
ensemblrs786200942
gopubmedrs786200942
geneviewrs786200942
scholarrs786200942
googlers786200942
pharmgkbrs786200942
gwascentralrs786200942
openSNPrs786200942
23andMers786200942
23andMe allrs786200942
SNP Nexus

SNPshotrs786200942
SNPdbers786200942
MSV3drs786200942
GWAS Ctlgrs786200942
Max Magnitude0
ClinVar
Risk rs786200942(-;-)
Alt rs786200942(-;-)
Reference Rs786200942(TGGCCAGCA;TGGCCAGCA)
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.1168073_1168081delATGCTGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000054400.4,