rs118203996

Orientation

minus

Stabilized

minus

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

Make rs118203996(C;T)

Make rs118203996(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42755616

Gene	LEPRE1, P3H1

is a	snp
is	mentioned by
dbSNP	rs118203996
dbSNP (classic)	rs118203996
ClinGen	rs118203996
ebi	rs118203996
HLI	rs118203996
Exac	rs118203996
Gnomad	rs118203996
Varsome	rs118203996
LitVar	rs118203996
Map	rs118203996
PheGenI	rs118203996
Biobank	rs118203996
1000 genomes	rs118203996
hgdp	rs118203996
ensembl	rs118203996
geneview	rs118203996
scholar	rs118203996
google	rs118203996
pharmgkb	rs118203996
gwascentral	rs118203996
openSNP	rs118203996
23andMe	rs118203996
SNPshot	rs118203996
SNPdbe	rs118203996
MSV3d	rs118203996
GWAS Ctlg	rs118203996

Max Magnitude

0

OMIM	610339
Desc
Variant	0006
Related	also

ClinVar
Risk	rs118203996(T;T)
Alt	rs118203996(T;T)
Reference	Rs118203996(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type 8 not provided
Variation	info
Gene	LEPRE1 P3H1
CLNDBN	Osteogenesis imperfecta type 8 not provided
Reversed	1
HGVS	NC_000001.10:g.43221287G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001320.3, RCV000224137.1,