Condition: Nephrocalcinosis
rs121908523
in
AGXT
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
rs104893726
in
CLDN16
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
rs145591298
in
CLDN19
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
rs114368325
in
CYP24A1
gene and
Nephrocalcinosis
PMID 21675912
2011 Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
PMID 22047571
2011 CYP24A1 mutations in idiopathic infantile hypercalcemia.
rs757796926
in
GRHPR
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
rs1555466999
in
LOC107984758;SLC12A1
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
rs896545456
in
LOC112267905;SLC12A1
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
rs779588655
in
SLC12A1
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
rs142772770
in
SLC34A1
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
rs778000327
in
SLC3A1
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
rs121964880
in
VAX2;ATP6V1B1
gene and
Nephrocalcinosis
PMID 28893421
2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.