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rs587777656

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777656(C;T)
Make rs587777656(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position30736616
GeneSRCAP
is asnp
is mentioned by
dbSNPrs587777656
ebirs587777656
HLIrs587777656
Exacrs587777656
Varsomers587777656
Maprs587777656
PheGenIrs587777656
hapmaprs587777656
1000 genomesrs587777656
hgdprs587777656
ensemblrs587777656
gopubmedrs587777656
geneviewrs587777656
scholarrs587777656
googlers587777656
pharmgkbrs587777656
gwascentralrs587777656
openSNPrs587777656
23andMers587777656
23andMe allrs587777656
SNP Nexus

SNPshotrs587777656
SNPdbers587777656
MSV3drs587777656
GWAS Ctlgrs587777656
Max Magnitude0
ClinVar
Risk rs587777656(T;T)
Alt rs587777656(T;T)
Reference rs587777656(C;C)
Significance Pathogenic
Disease Floating-Harbor syndrome
Variation info
Gene SRCAP
CLNDBN Floating-Harbor syndrome
Reversed 0
HGVS NC_000016.9:g.30747937C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133554.2,