rs779617179
|
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1563183469
|
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1557189252
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555918056
|
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1555605893
|
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1553878198
|
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1553535063
|
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1281877795
|
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1131690789
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs72658127
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in osteogenesis imperfecta.
|
458828 |
1979 |
rs1554396271
|
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in osteogenesis imperfecta.
|
458828 |
1979 |
rs797044915
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.
|
813535 |
1975 |
rs267607144
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Parastremmatic dwarfism.
|
956253 |
1976 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Parastremmatic dwarfism.
|
956253 |
1976 |
rs797044884
|
|
Multiple congenital anomalies
|
AAG |
0.700 |
CausalMutation
|
CLINVAR |
Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.
|
1063406 |
1976 |
rs397507531
|
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Multiple lentigines syndrome. Case report and review of the literature.
|
1258892 |
1976 |
rs397507529
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Multiple lentigines syndrome. Case report and review of the literature.
|
1258892 |
1976 |
rs397507520
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Multiple lentigines syndrome. Case report and review of the literature.
|
1258892 |
1976 |
rs28933386
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Multiple lentigines syndrome. Case report and review of the literature.
|
1258892 |
1976 |
rs1557082399
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
|
1415255 |
1992 |
rs122445110
|
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
|
1415255 |
1992 |
rs147001633
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.
|
1423634 |
1992 |
rs1554928978
|
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Beare-Stevenson cutis gyrata syndrome.
|
1519658 |
1992 |
rs121918490
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Beare-Stevenson cutis gyrata syndrome.
|
1519658 |
1992 |
rs267607144
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features.
|
1520078 |
1992 |