rs121908318

Orientation

minus

Stabilized

minus

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

Make rs121908318(C;C)

Make rs121908318(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142742343

Gene

SLURP1

is a	snp
is	mentioned by
dbSNP	rs121908318
dbSNP (classic)	rs121908318
ClinGen	rs121908318
ebi	rs121908318
HLI	rs121908318
Exac	rs121908318
Gnomad	rs121908318
Varsome	rs121908318
LitVar	rs121908318
Map	rs121908318
PheGenI	rs121908318
Biobank	rs121908318
1000 genomes	rs121908318
hgdp	rs121908318
ensembl	rs121908318
geneview	rs121908318
scholar	rs121908318
google	rs121908318
pharmgkb	rs121908318
gwascentral	rs121908318
openSNP	rs121908318
23andMe	rs121908318
SNPshot	rs121908318
SNPdbe	rs121908318
MSV3d	rs121908318
GWAS Ctlg	rs121908318

Max Magnitude

0

OMIM	606119
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908318(C;C)
Alt	rs121908318(C;C)
Reference	Rs121908318(T;T)
Significance	Pathogenic
Disease	Acroerythrokeratoderma
Variation	info
Gene	SLURP1
CLNDBN	Acroerythrokeratoderma
Reversed	1
HGVS	NC_000008.10:g.143823761A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004868.2,