rs142107837

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of an autosomal recessive polycystic kidney disease mutation

Make rs142107837(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

52028349

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs142107837
dbSNP (classic)	rs142107837
ClinGen	rs142107837
ebi	rs142107837
HLI	rs142107837
Exac	rs142107837
Gnomad	rs142107837
Varsome	rs142107837
LitVar	rs142107837
Map	rs142107837
PheGenI	rs142107837
Biobank	rs142107837
1000 genomes	rs142107837
hgdp	rs142107837
ensembl	rs142107837
geneview	rs142107837
scholar	rs142107837
google	rs142107837
pharmgkb	rs142107837
gwascentral	rs142107837
openSNP	rs142107837
23andMe	rs142107837
SNPshot	rs142107837
SNPdbe	rs142107837
MSV3d	rs142107837
GWAS Ctlg	rs142107837

Max Magnitude

3

ClinVar
Risk	rs142107837(T;T)
Alt	rs142107837(T;T)
Reference	Rs142107837(C;C)
Significance	Probable-Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	0
HGVS	NC_000006.11:g.51893147C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169334.1,