rs1085307130

Orientation

plus

Stabilized

plus

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

Chromosome

4

Position

139454243

Gene	LOC107984036, RAB33B

is a	snp
is	mentioned by
dbSNP	rs1085307130
dbSNP (classic)	rs1085307130
ClinGen	rs1085307130
ebi	rs1085307130
HLI	rs1085307130
Exac	rs1085307130
Gnomad	rs1085307130
Varsome	rs1085307130
LitVar	rs1085307130
Map	rs1085307130
PheGenI	rs1085307130
Biobank	rs1085307130
1000 genomes	rs1085307130
hgdp	rs1085307130
ensembl	rs1085307130
geneview	rs1085307130
scholar	rs1085307130
google	rs1085307130
pharmgkb	rs1085307130
gwascentral	rs1085307130
openSNP	rs1085307130
23andMe	rs1085307130
SNPshot	rs1085307130
SNPdbe	rs1085307130
MSV3d	rs1085307130
GWAS Ctlg	rs1085307130

Max Magnitude

0

ClinVar
Risk	rs1085307130(-;-)
Alt	rs1085307130(-;-)
Reference	Rs1085307130(CAGCGGGG;CAGCGGGG)
Significance	Pathogenic
Disease	Smith-McCort dysplasia 2
Variation	info
Gene	RAB33B LOC101927451
CLNDBN	Smith-McCort dysplasia 2
Reversed	0
HGVS	NC_000004.11:g.140375397_140375404delCGGGGCAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000488443.1,