rs1057519441

Orientation

minus

Stabilized

minus

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

Make rs1057519441(C;C)

Make rs1057519441(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

14683243

Gene	C12orf60, GUCY2C

is a	snp
is	mentioned by
dbSNP	rs1057519441
dbSNP (classic)	rs1057519441
ClinGen	rs1057519441
ebi	rs1057519441
HLI	rs1057519441
Exac	rs1057519441
Gnomad	rs1057519441
Varsome	rs1057519441
LitVar	rs1057519441
Map	rs1057519441
PheGenI	rs1057519441
Biobank	rs1057519441
1000 genomes	rs1057519441
hgdp	rs1057519441
ensembl	rs1057519441
geneview	rs1057519441
scholar	rs1057519441
google	rs1057519441
pharmgkb	rs1057519441
gwascentral	rs1057519441
openSNP	rs1057519441
23andMe	rs1057519441
SNPshot	rs1057519441
SNPdbe	rs1057519441
MSV3d	rs1057519441
GWAS Ctlg	rs1057519441

Max Magnitude

0

ClinVar
Risk	rs1057519441(C;C)
Alt	rs1057519441(C;C)
Reference	Rs1057519441(T;T)
Significance	Pathogenic
Disease	Abnormal biliary tract morphology Asplenia Duodenal atresia Reduced number of intrahepatic bile ducts
Variation	info
Gene	GUCY2C
CLNDBN	Abnormal biliary tract morphology Asplenia Duodenal atresia Reduced number of intrahepatic bile ducts
Reversed	1
HGVS	NC_000012.11:g.14836177A>G
CLNSRC
CLNACC	RCV000416478.1,