rs387907101

Orientation

minus

Stabilized

minus

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

Make rs387907101(A;A)

Make rs387907101(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

56980056

Gene

IMPAD1

is a	snp
is	mentioned by
dbSNP	rs387907101
dbSNP (classic)	rs387907101
ClinGen	rs387907101
ebi	rs387907101
HLI	rs387907101
Exac	rs387907101
Gnomad	rs387907101
Varsome	rs387907101
LitVar	rs387907101
Map	rs387907101
PheGenI	rs387907101
Biobank	rs387907101
1000 genomes	rs387907101
hgdp	rs387907101
ensembl	rs387907101
geneview	rs387907101
scholar	rs387907101
google	rs387907101
pharmgkb	rs387907101
gwascentral	rs387907101
openSNP	rs387907101
23andMe	rs387907101
SNPshot	rs387907101
SNPdbe	rs387907101
MSV3d	rs387907101
GWAS Ctlg	rs387907101

Max Magnitude

0

ClinVar
Risk	rs387907101(A;A)
Alt	rs387907101(A;A)
Reference	Rs387907101(G;G)
Significance	Pathogenic
Disease	Chondrodysplasia with joint dislocations
Variation	info
Gene	IMPAD1
CLNDBN	Chondrodysplasia with joint dislocations, GPAPP type
Reversed	1
HGVS	NC_000008.10:g.57892615C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024085.2,