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rs1057519336

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519336(A;A)
Make rs1057519336(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position35808811
GeneNPR2, SPAG8
is asnp
is mentioned by
dbSNPrs1057519336
dbSNP (old)rs1057519336
ClinGenrs1057519336
ebirs1057519336
HLIrs1057519336
Exacrs1057519336
Gnomadrs1057519336
Varsomers1057519336
Maprs1057519336
PheGenIrs1057519336
Biobankrs1057519336
1000 genomesrs1057519336
hgdprs1057519336
ensemblrs1057519336
gopubmedrs1057519336
geneviewrs1057519336
scholarrs1057519336
googlers1057519336
pharmgkbrs1057519336
gwascentralrs1057519336
openSNPrs1057519336
23andMers1057519336
23andMe allrs1057519336
SNPshotrs1057519336
SNPdbers1057519336
MSV3drs1057519336
GWAS Ctlgrs1057519336
Max Magnitude0
ClinVar
Risk rs1057519336(A;A)
Alt rs1057519336(A;A)
Reference Rs1057519336(G;G)
Significance Pathogenic
Disease Acromesomelic dysplasia Maroteaux type
Variation info
Gene SPAG8 NPR2
CLNDBN Acromesomelic dysplasia Maroteaux type
Reversed 0
HGVS NC_000009.11:g.35808808G>A
CLNSRC
CLNACC RCV000416371.1,