rs1060505038

Orientation

minus

Stabilized

minus

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

Make rs1060505038(C;C)

Make rs1060505038(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

1513875

Gene

INPP5K

is a	snp
is	mentioned by
dbSNP	rs1060505038
dbSNP (classic)	rs1060505038
ClinGen	rs1060505038
ebi	rs1060505038
HLI	rs1060505038
Exac	rs1060505038
Gnomad	rs1060505038
Varsome	rs1060505038
LitVar	rs1060505038
Map	rs1060505038
PheGenI	rs1060505038
Biobank	rs1060505038
1000 genomes	rs1060505038
hgdp	rs1060505038
ensembl	rs1060505038
geneview	rs1060505038
scholar	rs1060505038
google	rs1060505038
pharmgkb	rs1060505038
gwascentral	rs1060505038
openSNP	rs1060505038
23andMe	rs1060505038
SNPshot	rs1060505038
SNPdbe	rs1060505038
MSV3d	rs1060505038
GWAS Ctlg	rs1060505038

Max Magnitude

0

ClinVar
Risk	rs1060505038(C;C)
Alt	rs1060505038(C;C)
Reference	Rs1060505038(T;T)
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.1417169A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000477718.1,