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rs199469465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469465(C;T)
Make rs199469465(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position30737343
GeneSRCAP
is asnp
is mentioned by
dbSNPrs199469465
ebirs199469465
HLIrs199469465
Exacrs199469465
Varsomers199469465
Maprs199469465
PheGenIrs199469465
hapmaprs199469465
1000 genomesrs199469465
hgdprs199469465
ensemblrs199469465
gopubmedrs199469465
geneviewrs199469465
scholarrs199469465
googlers199469465
pharmgkbrs199469465
gwascentralrs199469465
openSNPrs199469465
23andMers199469465
23andMe allrs199469465
SNP Nexus

SNPshotrs199469465
SNPdbers199469465
MSV3drs199469465
GWAS Ctlgrs199469465
Max Magnitude0
ClinVar
Risk rs199469465(T;T)
Alt rs199469465(T;T)
Reference rs199469465(C;C)
Significance Pathogenic
Disease Floating-Harbor syndrome
Variation info
Gene SRCAP
CLNDBN Floating-Harbor syndrome
Reversed 0
HGVS NC_000016.9:g.30748664C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023896.3,