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rs1057519442

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057519442(AG;AG)
Make rs1057519442(AG;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position100912217
GeneSLC30A7
is asnp
is mentioned by
dbSNPrs1057519442
dbSNP (old)rs1057519442
ClinGenrs1057519442
ebirs1057519442
HLIrs1057519442
Exacrs1057519442
Gnomadrs1057519442
Varsomers1057519442
Maprs1057519442
PheGenIrs1057519442
Biobankrs1057519442
1000 genomesrs1057519442
hgdprs1057519442
ensemblrs1057519442
gopubmedrs1057519442
geneviewrs1057519442
scholarrs1057519442
googlers1057519442
pharmgkbrs1057519442
gwascentralrs1057519442
openSNPrs1057519442
23andMers1057519442
23andMe allrs1057519442
SNPshotrs1057519442
SNPdbers1057519442
MSV3drs1057519442
GWAS Ctlgrs1057519442
Max Magnitude0
ClinVar
Risk rs1057519442(AG;AG)
Alt rs1057519442(AG;AG)
Reference Rs1057519442(CA;CA)
Significance Pathogenic
Disease Joubert syndrome 1
Variation info
Gene SLC30A7
CLNDBN Joubert syndrome 1
Reversed 0
HGVS NC_000001.10:g.101377773_101377774delCAinsAG
CLNSRC
CLNACC RCV000416450.1,