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rs199469468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199469468(-;-)
Make rs199469468(-;C)
Make rs199469468(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position30737356
GeneSRCAP
is asnp
is mentioned by
dbSNPrs199469468
ebirs199469468
HLIrs199469468
Exacrs199469468
Varsomers199469468
Maprs199469468
PheGenIrs199469468
hapmaprs199469468
1000 genomesrs199469468
hgdprs199469468
ensemblrs199469468
gopubmedrs199469468
geneviewrs199469468
scholarrs199469468
googlers199469468
pharmgkbrs199469468
gwascentralrs199469468
openSNPrs199469468
23andMers199469468
23andMe allrs199469468
SNP Nexus

SNPshotrs199469468
SNPdbers199469468
MSV3drs199469468
GWAS Ctlgrs199469468
Max Magnitude0
ClinVar
Risk rs199469468(C;C)
Alt rs199469468(C;C)
Reference rs199469468(;)
Significance Pathogenic
Disease Floating-Harbor syndrome
Variation info
Gene SRCAP
CLNDBN Floating-Harbor syndrome
Reversed 0
HGVS NC_000016.9:g.30748677dupC
CLNSRC
CLNACC