rs1057519442

Orientation

plus

Stabilized

plus

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

Make rs1057519442(AG;AG)

Make rs1057519442(AG;CA)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

100912217

Gene

SLC30A7

is a	snp
is	mentioned by
dbSNP	rs1057519442
dbSNP (classic)	rs1057519442
ClinGen	rs1057519442
ebi	rs1057519442
HLI	rs1057519442
Exac	rs1057519442
Gnomad	rs1057519442
Varsome	rs1057519442
LitVar	rs1057519442
Map	rs1057519442
PheGenI	rs1057519442
Biobank	rs1057519442
1000 genomes	rs1057519442
hgdp	rs1057519442
ensembl	rs1057519442
geneview	rs1057519442
scholar	rs1057519442
google	rs1057519442
pharmgkb	rs1057519442
gwascentral	rs1057519442
openSNP	rs1057519442
23andMe	rs1057519442
SNPshot	rs1057519442
SNPdbe	rs1057519442
MSV3d	rs1057519442
GWAS Ctlg	rs1057519442

Max Magnitude

0

ClinVar
Risk	rs1057519442(AG;AG)
Alt	rs1057519442(AG;AG)
Reference	Rs1057519442(CA;CA)
Significance	Pathogenic
Disease	Joubert syndrome 1
Variation	info
Gene	SLC30A7
CLNDBN	Joubert syndrome 1
Reversed	0
HGVS	NC_000001.10:g.101377773_101377774delCAinsAG
CLNSRC
CLNACC	RCV000416450.1,