rs121908171

Orientation

minus

Stabilized

minus

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

Make rs121908171(A;A)

Make rs121908171(A;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

57194817

Gene

RAB23

is a	snp
is	mentioned by
dbSNP	rs121908171
dbSNP (classic)	rs121908171
ClinGen	rs121908171
ebi	rs121908171
HLI	rs121908171
Exac	rs121908171
Gnomad	rs121908171
Varsome	rs121908171
LitVar	rs121908171
Map	rs121908171
PheGenI	rs121908171
Biobank	rs121908171
1000 genomes	rs121908171
hgdp	rs121908171
ensembl	rs121908171
geneview	rs121908171
scholar	rs121908171
google	rs121908171
pharmgkb	rs121908171
gwascentral	rs121908171
openSNP	rs121908171
23andMe	rs121908171
SNPshot	rs121908171
SNPdbe	rs121908171
MSV3d	rs121908171
GWAS Ctlg	rs121908171

GMAF

0.0009183

Max Magnitude

0

OMIM	606144
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908171(A;A)
Alt	rs121908171(A;A)
Reference	Rs121908171(T;T)
Significance	Pathogenic
Disease	Carpenter syndrome 1 not provided
Variation	info
Gene	RAB23
CLNDBN	Carpenter syndrome 1 not provided
Reversed	1
HGVS	NC_000006.11:g.57059615A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004853.3, RCV000407501.1,