rs527236212

Orientation

plus

Stabilized

plus

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

Make rs527236212(-;-)

Make rs527236212(-;A)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

231352612

Gene

SPRTN

is a	snp
is	mentioned by
dbSNP	rs527236212
dbSNP (classic)	rs527236212
ClinGen	rs527236212
ebi	rs527236212
HLI	rs527236212
Exac	rs527236212
Gnomad	rs527236212
Varsome	rs527236212
LitVar	rs527236212
Map	rs527236212
PheGenI	rs527236212
Biobank	rs527236212
1000 genomes	rs527236212
hgdp	rs527236212
ensembl	rs527236212
geneview	rs527236212
scholar	rs527236212
google	rs527236212
pharmgkb	rs527236212
gwascentral	rs527236212
openSNP	rs527236212
23andMe	rs527236212
SNPshot	rs527236212
SNPdbe	rs527236212
MSV3d	rs527236212
GWAS Ctlg	rs527236212

Merged from

Rs727502868

Max Magnitude

0

ClinVar
Risk	rs527236212(-;-)
Alt	rs527236212(-;-)
Reference	Rs527236212(A;A)
Significance	Pathogenic
Disease	Ruijs-Aalfs syndrome
Variation	info
Gene	SPRTN
CLNDBN	Ruijs-Aalfs syndrome
Reversed	0
HGVS	NC_000001.10:g.231488360delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000150048.3,