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rs199469464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469464(C;T)
Make rs199469464(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position30737370
GeneSRCAP
is asnp
is mentioned by
dbSNPrs199469464
ebirs199469464
HLIrs199469464
Exacrs199469464
Varsomers199469464
Maprs199469464
PheGenIrs199469464
hapmaprs199469464
1000 genomesrs199469464
hgdprs199469464
ensemblrs199469464
gopubmedrs199469464
geneviewrs199469464
scholarrs199469464
googlers199469464
pharmgkbrs199469464
gwascentralrs199469464
openSNPrs199469464
23andMers199469464
23andMe allrs199469464
SNP Nexus

SNPshotrs199469464
SNPdbers199469464
MSV3drs199469464
GWAS Ctlgrs199469464
Max Magnitude0
ClinVar
Risk rs199469464(T;T)
Alt rs199469464(T;T)
Reference rs199469464(C;C)
Significance Pathogenic
Disease Floating-Harbor syndrome
Variation info
Gene SRCAP
CLNDBN Floating-Harbor syndrome
Reversed 0
HGVS NC_000016.9:g.30748691C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023895.4,