rs199469466

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs199469466(-;-)

Make rs199469466(-;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

30737589

Gene

SRCAP

is a	snp
is	mentioned by
dbSNP	rs199469466
dbSNP (classic)	rs199469466
ClinGen	rs199469466
ebi	rs199469466
HLI	rs199469466
Exac	rs199469466
Gnomad	rs199469466
Varsome	rs199469466
LitVar	rs199469466
Map	rs199469466
PheGenI	rs199469466
Biobank	rs199469466
1000 genomes	rs199469466
hgdp	rs199469466
ensembl	rs199469466
geneview	rs199469466
scholar	rs199469466
google	rs199469466
pharmgkb	rs199469466
gwascentral	rs199469466
openSNP	rs199469466
23andMe	rs199469466
SNPshot	rs199469466
SNPdbe	rs199469466
MSV3d	rs199469466
GWAS Ctlg	rs199469466

Max Magnitude

0

ClinVar
Risk	rs199469466(-;-)
Alt	rs199469466(-;-)
Reference	Rs199469466(C;C)
Significance	Pathogenic
Disease	Floating-Harbor syndrome
Variation	info
Gene	SRCAP
CLNDBN	Floating-Harbor syndrome
Reversed	0
HGVS	NC_000016.9:g.30748910delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023897.4,