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rs200407856

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200407856(A;A)
Make rs200407856(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position15516005
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs200407856
ebirs200407856
HLIrs200407856
Exacrs200407856
Varsomers200407856
Maprs200407856
PheGenIrs200407856
hapmaprs200407856
1000 genomesrs200407856
hgdprs200407856
ensemblrs200407856
gopubmedrs200407856
geneviewrs200407856
scholarrs200407856
googlers200407856
pharmgkbrs200407856
gwascentralrs200407856
openSNPrs200407856
23andMers200407856
23andMe allrs200407856
SNP Nexus

SNPshotrs200407856
SNPdbers200407856
MSV3drs200407856
GWAS Ctlgrs200407856
Max Magnitude0
ClinVar
Risk rs200407856(A;A)
Alt rs200407856(A;A)
Reference rs200407856(G;G)
Significance Pathogenic
Disease not provided Familial aplasia of the vermis Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN not provided Familial aplasia of the vermis Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15517628G>A
CLNSRC HGMD
CLNACC RCV000152936.3, RCV000198057.1, RCV000201663.1,