rs119455952

Orientation

plus

Stabilized

plus

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

Make rs119455952(C;T)

Make rs119455952(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

170552136

Gene

GORAB

is a	snp
is	mentioned by
dbSNP	rs119455952
dbSNP (classic)	rs119455952
ClinGen	rs119455952
ebi	rs119455952
HLI	rs119455952
Exac	rs119455952
Gnomad	rs119455952
Varsome	rs119455952
LitVar	rs119455952
Map	rs119455952
PheGenI	rs119455952
Biobank	rs119455952
1000 genomes	rs119455952
hgdp	rs119455952
ensembl	rs119455952
geneview	rs119455952
scholar	rs119455952
google	rs119455952
pharmgkb	rs119455952
gwascentral	rs119455952
openSNP	rs119455952
23andMe	rs119455952
SNPshot	rs119455952
SNPdbe	rs119455952
MSV3d	rs119455952
GWAS Ctlg	rs119455952

Max Magnitude

0

OMIM	607983
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119455952(T;T)
Alt	rs119455952(T;T)
Reference	Rs119455952(C;C)
Significance	Pathogenic
Disease	Geroderma osteodysplastica
Variation	info
Gene	GORAB
CLNDBN	Geroderma osteodysplastica
Reversed	0
HGVS	NC_000001.10:g.170521277C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002771.3,