rs1060505039

Orientation

minus

Stabilized

minus

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

Make rs1060505039(A;G)

Make rs1060505039(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

1509784

Gene

INPP5K

is a	snp
is	mentioned by
dbSNP	rs1060505039
dbSNP (classic)	rs1060505039
ClinGen	rs1060505039
ebi	rs1060505039
HLI	rs1060505039
Exac	rs1060505039
Gnomad	rs1060505039
Varsome	rs1060505039
LitVar	rs1060505039
Map	rs1060505039
PheGenI	rs1060505039
Biobank	rs1060505039
1000 genomes	rs1060505039
hgdp	rs1060505039
ensembl	rs1060505039
geneview	rs1060505039
scholar	rs1060505039
google	rs1060505039
pharmgkb	rs1060505039
gwascentral	rs1060505039
openSNP	rs1060505039
23andMe	rs1060505039
SNPshot	rs1060505039
SNPdbe	rs1060505039
MSV3d	rs1060505039
GWAS Ctlg	rs1060505039

Max Magnitude

0

ClinVar
Risk	rs1060505039(G;G)
Alt	rs1060505039(G;G)
Reference	Rs1060505039(A;A)
Significance	Pathogenic
Disease	Muscular dystrophy
Variation	info
Gene	INPP5K
CLNDBN	Muscular dystrophy, congenital, with cataracts and intellectual disability
Reversed	1
HGVS	NC_000017.10:g.1413078T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000477699.1,