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rs199469467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs199469467(-;-)
Make rs199469467(-;TC)
ReferenceGRCh38 38.1/141
Chromosome16
Position30737258
GeneSRCAP
is asnp
is mentioned by
dbSNPrs199469467
ebirs199469467
HLIrs199469467
Exacrs199469467
Varsomers199469467
Maprs199469467
PheGenIrs199469467
hapmaprs199469467
1000 genomesrs199469467
hgdprs199469467
ensemblrs199469467
gopubmedrs199469467
geneviewrs199469467
scholarrs199469467
googlers199469467
pharmgkbrs199469467
gwascentralrs199469467
openSNPrs199469467
23andMers199469467
23andMe allrs199469467
SNP Nexus

SNPshotrs199469467
SNPdbers199469467
MSV3drs199469467
GWAS Ctlgrs199469467
Max Magnitude0
ClinVar
Risk rs199469467(;)
Alt rs199469467(;)
Reference rs199469467(TC;TC)
Significance Pathogenic
Disease Floating-Harbor syndrome
Variation info
Gene SRCAP
CLNDBN Floating-Harbor syndrome
Reversed 0
HGVS NC_000016.9:g.30748579_30748580delTC
CLNSRC
CLNACC