rs28937888

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs28937888(A;A)

Make rs28937888(A;C)

Make rs28937888(C;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142741199

Gene

SLURP1

is a	snp
is	mentioned by
dbSNP	rs28937888
dbSNP (classic)	rs28937888
ClinGen	rs28937888
ebi	rs28937888
HLI	rs28937888
Exac	rs28937888
Gnomad	rs28937888
Varsome	rs28937888
LitVar	rs28937888
Map	rs28937888
PheGenI	rs28937888
Biobank	rs28937888
1000 genomes	rs28937888
hgdp	rs28937888
ensembl	rs28937888
geneview	rs28937888
scholar	rs28937888
google	rs28937888
pharmgkb	rs28937888
gwascentral	rs28937888
openSNP	rs28937888
23andMe	rs28937888
SNPshot	rs28937888
SNPdbe	rs28937888
MSV3d	rs28937888
GWAS Ctlg	rs28937888

Max Magnitude

0

OMIM	606119
Desc	MAL DE MELEDA
Variant	0004
Related	also

ClinVar
Risk	rs28937888(A;A) rs28937888(C;C)
Alt	rs28937888(A;A) rs28937888(C;C)
Reference	Rs28937888(G;G)
Significance	Pathogenic
Disease	Acroerythrokeratoderma
Variation	info
Gene	SLURP1
CLNDBN	Acroerythrokeratoderma
Reversed	1
HGVS	NC_000008.10:g.143822617C>G; NC_000008.10:g.143822617C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004866.2, RCV000004865.2,