rs587780432

Orientation

plus

Stabilized

plus

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

Make rs587780432(G;T)

Make rs587780432(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

22982394

Gene

RBBP8

is a	snp
is	mentioned by
dbSNP	rs587780432
dbSNP (classic)	rs587780432
ClinGen	rs587780432
ebi	rs587780432
HLI	rs587780432
Exac	rs587780432
Gnomad	rs587780432
Varsome	rs587780432
LitVar	rs587780432
Map	rs587780432
PheGenI	rs587780432
Biobank	rs587780432
1000 genomes	rs587780432
hgdp	rs587780432
ensembl	rs587780432
geneview	rs587780432
scholar	rs587780432
google	rs587780432
pharmgkb	rs587780432
gwascentral	rs587780432
openSNP	rs587780432
23andMe	rs587780432
SNPshot	rs587780432
SNPdbe	rs587780432
MSV3d	rs587780432
GWAS Ctlg	rs587780432

Max Magnitude

0

ClinVar
Risk	rs587780432(T;T)
Alt	rs587780432(T;T)
Reference	Rs587780432(G;G)
Significance	Pathogenic
Disease	Seckel syndrome 2
Variation	info
Gene	RBBP8
CLNDBN	Seckel syndrome 2
Reversed	0
HGVS	NC_000018.9:g.20562357G>T
CLNSRC
CLNACC	RCV000118129.1,