rs119473031

Orientation

plus

Stabilized

plus

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

Make rs119473031(C;T)

Make rs119473031(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

237493529

Gene

MLPH

is a	snp
is	mentioned by
dbSNP	rs119473031
dbSNP (classic)	rs119473031
ClinGen	rs119473031
ebi	rs119473031
HLI	rs119473031
Exac	rs119473031
Gnomad	rs119473031
Varsome	rs119473031
LitVar	rs119473031
Map	rs119473031
PheGenI	rs119473031
Biobank	rs119473031
1000 genomes	rs119473031
hgdp	rs119473031
ensembl	rs119473031
geneview	rs119473031
scholar	rs119473031
google	rs119473031
pharmgkb	rs119473031
gwascentral	rs119473031
openSNP	rs119473031
23andMe	rs119473031
SNPshot	rs119473031
SNPdbe	rs119473031
MSV3d	rs119473031
GWAS Ctlg	rs119473031

Max Magnitude

0

OMIM	606526
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119473031(T;T)
Alt	rs119473031(T;T)
Reference	Rs119473031(C;C)
Significance	Pathogenic
Disease	Griscelli syndrome type 3
Variation	info
Gene	MLPH
CLNDBN	Griscelli syndrome type 3
Reversed	0
HGVS	NC_000002.11:g.238402172C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004489.2,