rs200488568

Orientation

plus

Stabilized

plus

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

Make rs200488568(C;C)

Make rs200488568(C;T)

Reference

GRCh38 38.1/142

Chromosome

22

Position

50454858

Gene

SBF1

is a	snp
is	mentioned by
dbSNP	rs200488568
dbSNP (classic)	rs200488568
ClinGen	rs200488568
ebi	rs200488568
HLI	rs200488568
Exac	rs200488568
Gnomad	rs200488568
Varsome	rs200488568
LitVar	rs200488568
Map	rs200488568
PheGenI	rs200488568
Biobank	rs200488568
1000 genomes	rs200488568
hgdp	rs200488568
ensembl	rs200488568
geneview	rs200488568
scholar	rs200488568
google	rs200488568
pharmgkb	rs200488568
gwascentral	rs200488568
openSNP	rs200488568
23andMe	rs200488568
SNPshot	rs200488568
SNPdbe	rs200488568
MSV3d	rs200488568
GWAS Ctlg	rs200488568

Max Magnitude

0

ClinVar
Risk	rs200488568(C;C)
Alt	rs200488568(C;C)
Reference	Rs200488568(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	SBF1
CLNDBN	Charcot-Marie-Tooth disease, type 4B3
Reversed	0
HGVS	NC_000022.10:g.50893287T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043694.6,