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rs786204849

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204849(C;T)
Make rs786204849(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position65885181
GeneFIBP
is asnp
is mentioned by
dbSNPrs786204849
ebirs786204849
HLIrs786204849
Exacrs786204849
Varsomers786204849
Maprs786204849
PheGenIrs786204849
hapmaprs786204849
1000 genomesrs786204849
hgdprs786204849
ensemblrs786204849
gopubmedrs786204849
geneviewrs786204849
scholarrs786204849
googlers786204849
pharmgkbrs786204849
gwascentralrs786204849
openSNPrs786204849
23andMers786204849
23andMe allrs786204849
SNP Nexus

SNPshotrs786204849
SNPdbers786204849
MSV3drs786204849
GWAS Ctlgrs786204849
Max Magnitude0
ClinVar
Risk rs786204849(T;T)
Alt rs786204849(T;T)
Reference rs786204849(C;C)
Significance Probable-Pathogenic
Disease Congenital ocular coloboma Large hands Macrocephaly Overgrowth facial dysmorphism learning disabilities
Variation info
Gene FIBP
CLNDBN Congenital ocular coloboma Large hands Macrocephaly Overgrowth facial dysmorphism learning disabilities
Reversed 1
HGVS NC_000011.9:g.65652652G>A
CLNSRC
CLNACC RCV000169762.1,