rs1057517193

Orientation

plus

Stabilized

plus

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

Make rs1057517193(-;-)

Make rs1057517193(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

122742974

Gene

BBS12

is a	snp
is	mentioned by
dbSNP	rs1057517193
dbSNP (classic)	rs1057517193
ClinGen	rs1057517193
ebi	rs1057517193
HLI	rs1057517193
Exac	rs1057517193
Gnomad	rs1057517193
Varsome	rs1057517193
LitVar	rs1057517193
Map	rs1057517193
PheGenI	rs1057517193
Biobank	rs1057517193
1000 genomes	rs1057517193
hgdp	rs1057517193
ensembl	rs1057517193
geneview	rs1057517193
scholar	rs1057517193
google	rs1057517193
pharmgkb	rs1057517193
gwascentral	rs1057517193
openSNP	rs1057517193
23andMe	rs1057517193
SNPshot	rs1057517193
SNPdbe	rs1057517193
MSV3d	rs1057517193
GWAS Ctlg	rs1057517193

Max Magnitude

0

ClinVar
Risk	rs1057517193(-;-)
Alt	rs1057517193(-;-)
Reference	Rs1057517193(G;G)
Significance	Probable-Pathogenic
Disease	Bardet-Biedl syndrome 12
Variation	info
Gene	BBS12
CLNDBN	Bardet-Biedl syndrome 12
Reversed	0
HGVS	NC_000004.11:g.123664129delG
CLNSRC
CLNACC	RCV000412053.1,