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rs199469466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469466(-;-)
Make rs199469466(-;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position30737589
GeneSRCAP
is asnp
is mentioned by
dbSNPrs199469466
ebirs199469466
HLIrs199469466
Exacrs199469466
Varsomers199469466
Maprs199469466
PheGenIrs199469466
hapmaprs199469466
1000 genomesrs199469466
hgdprs199469466
ensemblrs199469466
gopubmedrs199469466
geneviewrs199469466
scholarrs199469466
googlers199469466
pharmgkbrs199469466
gwascentralrs199469466
openSNPrs199469466
23andMers199469466
23andMe allrs199469466
SNP Nexus

SNPshotrs199469466
SNPdbers199469466
MSV3drs199469466
GWAS Ctlgrs199469466
Max Magnitude0
ClinVar
Risk rs199469466(;)
Alt rs199469466(;)
Reference rs199469466(C;C)
Significance Pathogenic
Disease Floating-Harbor syndrome
Variation info
Gene SRCAP
CLNDBN Floating-Harbor syndrome
Reversed 0
HGVS NC_000016.9:g.30748910delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023897.3,