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rs1057518441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518441(A;A)
Make rs1057518441(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position44333224
GeneC21orf2
is asnp
is mentioned by
dbSNPrs1057518441
dbSNP (old)rs1057518441
ClinGenrs1057518441
ebirs1057518441
HLIrs1057518441
Exacrs1057518441
Gnomadrs1057518441
Varsomers1057518441
LitVarrs1057518441
Maprs1057518441
PheGenIrs1057518441
Biobankrs1057518441
1000 genomesrs1057518441
hgdprs1057518441
ensemblrs1057518441
gopubmedrs1057518441
geneviewrs1057518441
scholarrs1057518441
googlers1057518441
pharmgkbrs1057518441
gwascentralrs1057518441
openSNPrs1057518441
23andMers1057518441
23andMe allrs1057518441
SNPshotrs1057518441
SNPdbers1057518441
MSV3drs1057518441
GWAS Ctlgrs1057518441
Max Magnitude0
ClinVar
Risk rs1057518441(A;A)
Alt rs1057518441(A;A)
Reference Rs1057518441(G;G)
Significance Pathogenic
Disease not specified RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
Variation info
Gene C21orf2
CLNDBN not specified RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
Reversed 1
HGVS NC_000021.8:g.45753107C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000414544.1, RCV000492050.1,