rs121918299

Orientation

plus

Stabilized

plus

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

Make rs121918299(C;C)

Make rs121918299(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

69216367

Gene

TJP2

is a	snp
is	mentioned by
dbSNP	rs121918299
dbSNP (classic)	rs121918299
ClinGen	rs121918299
ebi	rs121918299
HLI	rs121918299
Exac	rs121918299
Gnomad	rs121918299
Varsome	rs121918299
LitVar	rs121918299
Map	rs121918299
PheGenI	rs121918299
Biobank	rs121918299
1000 genomes	rs121918299
hgdp	rs121918299
ensembl	rs121918299
geneview	rs121918299
scholar	rs121918299
google	rs121918299
pharmgkb	rs121918299
gwascentral	rs121918299
openSNP	rs121918299
23andMe	rs121918299
SNPshot	rs121918299
SNPdbe	rs121918299
MSV3d	rs121918299
GWAS Ctlg	rs121918299

Max Magnitude

0

OMIM	607709
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918299(C;C)
Alt	rs121918299(C;C)
Reference	Rs121918299(T;T)
Significance	Pathogenic
Disease	Hypercholanemia
Variation	info
Gene	TJP2
CLNDBN	Hypercholanemia, familial
Reversed	0
HGVS	NC_000009.11:g.71831283T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003041.2,