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rs587776521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAA;CAA) 0 common in clinvar
Make rs587776521(CAA;TGAGTAAGGC)
Make rs587776521(TGAGTAAGGC;TGAGTAAGGC)
ReferenceGRCh38 38.1/142
Chromosome4
Position55359410
GeneSRD5A3
is asnp
is mentioned by
dbSNPrs587776521
ebirs587776521
HLIrs587776521
Exacrs587776521
Varsomers587776521
Maprs587776521
PheGenIrs587776521
hapmaprs587776521
1000 genomesrs587776521
hgdprs587776521
ensemblrs587776521
gopubmedrs587776521
geneviewrs587776521
scholarrs587776521
googlers587776521
pharmgkbrs587776521
gwascentralrs587776521
openSNPrs587776521
23andMers587776521
23andMe allrs587776521
SNP Nexus

SNPshotrs587776521
SNPdbers587776521
MSV3drs587776521
GWAS Ctlgrs587776521
Max Magnitude0
ClinVar
Risk rs587776521(TGAGTAAGGC;TGAGTAAGGC)
Alt rs587776521(TGAGTAAGGC;TGAGTAAGGC)
Reference rs587776521(CAA;CAA)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1Q
Variation info
Gene SRD5A3
CLNDBN Congenital disorder of glycosylation type 1Q
Reversed 0
HGVS NC_000004.11:g.56225577_56225579delCAAinsTGAGTAAGGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000890.3,