rs548728088

Orientation

plus

Stabilized

plus

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

Make rs548728088(C;T)

Make rs548728088(T;T)

Reference

GRCh38 38.1/142

Chromosome

20

Position

62952855

Gene

SLC17A9

is a	snp
is	mentioned by
dbSNP	rs548728088
dbSNP (classic)	rs548728088
ClinGen	rs548728088
ebi	rs548728088
HLI	rs548728088
Exac	rs548728088
Gnomad	rs548728088
Varsome	rs548728088
LitVar	rs548728088
Map	rs548728088
PheGenI	rs548728088
Biobank	rs548728088
1000 genomes	rs548728088
hgdp	rs548728088
ensembl	rs548728088
geneview	rs548728088
scholar	rs548728088
google	rs548728088
pharmgkb	rs548728088
gwascentral	rs548728088
openSNP	rs548728088
23andMe	rs548728088
SNPshot	rs548728088
SNPdbe	rs548728088
MSV3d	rs548728088
GWAS Ctlg	rs548728088

Max Magnitude

0

ClinVar
Risk	rs548728088(T;T)
Alt	rs548728088(T;T)
Reference	Rs548728088(C;C)
Significance	Pathogenic
Disease	Porokeratosis 8
Variation	info
Gene	SLC17A9
CLNDBN	Porokeratosis 8, disseminated superficial actinic type
Reversed	0
HGVS	NC_000020.10:g.61584207C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144722.2,