rs121908319

Orientation

minus

Stabilized

minus

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

Make rs121908319(C;C)

Make rs121908319(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142741226

Gene

SLURP1

is a	snp
is	mentioned by
dbSNP	rs121908319
dbSNP (classic)	rs121908319
ClinGen	rs121908319
ebi	rs121908319
HLI	rs121908319
Exac	rs121908319
Gnomad	rs121908319
Varsome	rs121908319
LitVar	rs121908319
Map	rs121908319
PheGenI	rs121908319
Biobank	rs121908319
1000 genomes	rs121908319
hgdp	rs121908319
ensembl	rs121908319
geneview	rs121908319
scholar	rs121908319
google	rs121908319
pharmgkb	rs121908319
gwascentral	rs121908319
openSNP	rs121908319
23andMe	rs121908319
SNPshot	rs121908319
SNPdbe	rs121908319
MSV3d	rs121908319
GWAS Ctlg	rs121908319

Max Magnitude

0

OMIM	606119
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908319(C;C)
Alt	rs121908319(C;C)
Reference	Rs121908319(T;T)
Significance	Pathogenic
Disease	Acroerythrokeratoderma
Variation	info
Gene	SLURP1
CLNDBN	Acroerythrokeratoderma
Reversed	1
HGVS	NC_000008.10:g.143822644A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004869.3,