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rs587776938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587776938(-;G)
Make rs587776938(G;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position30737903
GeneSRCAP
is asnp
is mentioned by
dbSNPrs587776938
dbSNP (classic)rs587776938
ClinGenrs587776938
ebirs587776938
HLIrs587776938
Exacrs587776938
Gnomadrs587776938
Varsomers587776938
LitVarrs587776938
Maprs587776938
PheGenIrs587776938
Biobankrs587776938
1000 genomesrs587776938
hgdprs587776938
ensemblrs587776938
geneviewrs587776938
scholarrs587776938
googlers587776938
pharmgkbrs587776938
gwascentralrs587776938
openSNPrs587776938
23andMers587776938
SNPshotrs587776938
SNPdbers587776938
MSV3drs587776938
GWAS Ctlgrs587776938
Max Magnitude0
ClinVar
Risk rs587776938(G;G)
Alt rs587776938(G;G)
Reference Rs587776938(-;-)
Significance Pathogenic
Disease Floating-Harbor syndrome
Variation info
Gene SRCAP
CLNDBN Floating-Harbor syndrome
Reversed 0
HGVS NC_000016.9:g.30749224dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000033112.3,