rs121918327

Orientation

plus

Stabilized

plus

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

Make rs121918327(C;T)

Make rs121918327(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

122742955

Gene

BBS12

is a	snp
is	mentioned by
dbSNP	rs121918327
dbSNP (classic)	rs121918327
ClinGen	rs121918327
ebi	rs121918327
HLI	rs121918327
Exac	rs121918327
Gnomad	rs121918327
Varsome	rs121918327
LitVar	rs121918327
Map	rs121918327
PheGenI	rs121918327
Biobank	rs121918327
1000 genomes	rs121918327
hgdp	rs121918327
ensembl	rs121918327
geneview	rs121918327
scholar	rs121918327
google	rs121918327
pharmgkb	rs121918327
gwascentral	rs121918327
openSNP	rs121918327
23andMe	rs121918327
SNPshot	rs121918327
SNPdbe	rs121918327
MSV3d	rs121918327
GWAS Ctlg	rs121918327

Max Magnitude

0

OMIM	610683
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918327(T;T)
Alt	rs121918327(T;T)
Reference	Rs121918327(C;C)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 12
Variation	info
Gene	BBS12
CLNDBN	Bardet-Biedl syndrome 12
Reversed	0
HGVS	NC_000004.11:g.123664110C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001206.3,