rs373804633

Orientation

plus

Stabilized

plus

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

Make rs373804633(C;T)

Make rs373804633(T;T)

Reference

GRCh38 38.1/142

Chromosome

18

Position

22968855

Gene

RBBP8

is a	snp
is	mentioned by
dbSNP	rs373804633
dbSNP (classic)	rs373804633
ClinGen	rs373804633
ebi	rs373804633
HLI	rs373804633
Exac	rs373804633
Gnomad	rs373804633
Varsome	rs373804633
LitVar	rs373804633
Map	rs373804633
PheGenI	rs373804633
Biobank	rs373804633
1000 genomes	rs373804633
hgdp	rs373804633
ensembl	rs373804633
geneview	rs373804633
scholar	rs373804633
google	rs373804633
pharmgkb	rs373804633
gwascentral	rs373804633
openSNP	rs373804633
23andMe	rs373804633
SNPshot	rs373804633
SNPdbe	rs373804633
MSV3d	rs373804633
GWAS Ctlg	rs373804633

Max Magnitude

0

ClinVar
Risk	rs373804633(T;T)
Alt	rs373804633(T;T)
Reference	Rs373804633(C;C)
Significance	Pathogenic
Disease	Seckel syndrome 2
Variation	info
Gene	RBBP8
CLNDBN	Seckel syndrome 2
Reversed	0
HGVS	NC_000018.9:g.20548818C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000115043.3,