rs397514511

Orientation

plus

Stabilized

plus

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

Make rs397514511(C;T)

Make rs397514511(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

72230799

Gene

INPPL1

is a	snp
is	mentioned by
dbSNP	rs397514511
dbSNP (classic)	rs397514511
ClinGen	rs397514511
ebi	rs397514511
HLI	rs397514511
Exac	rs397514511
Gnomad	rs397514511
Varsome	rs397514511
LitVar	rs397514511
Map	rs397514511
PheGenI	rs397514511
Biobank	rs397514511
1000 genomes	rs397514511
hgdp	rs397514511
ensembl	rs397514511
geneview	rs397514511
scholar	rs397514511
google	rs397514511
pharmgkb	rs397514511
gwascentral	rs397514511
openSNP	rs397514511
23andMe	rs397514511
SNPshot	rs397514511
SNPdbe	rs397514511
MSV3d	rs397514511
GWAS Ctlg	rs397514511

Max Magnitude

0

ClinVar
Risk	rs397514511(T;T)
Alt	rs397514511(T;T)
Reference	Rs397514511(C;C)
Significance	Pathogenic
Disease	Opsismodysplasia
Variation	info
Gene	INPPL1
CLNDBN	Opsismodysplasia
Reversed	0
HGVS	NC_000011.9:g.71941843C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032675.5,