rs1057516040, NALCN

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Arthrogryposis-like hand anomaly
CUI: C4025173
Disease: Arthrogryposis-like hand anomaly
1 0.851 0.200 13 101292052 missense variant T/C snv 0.700 1.000 1 2016 2016
Chin with horizontal crease
CUI: C4023171
Disease: Chin with horizontal crease
1 0.851 0.200 13 101292052 missense variant T/C snv 0.700 1.000 1 2016 2016
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
21 0.851 0.200 13 101292052 missense variant T/C snv 0.700 1.000 1 2016 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.200 13 101292052 missense variant T/C snv 0.700 1.000 1 2016 2016
Overfolded helix
CUI: C1837731
Disease: Overfolded helix
7 0.851 0.200 13 101292052 missense variant T/C snv 0.700 1.000 1 2016 2016
Retrognathia
CUI: C3494422
Disease: Retrognathia
11 0.851 0.200 13 101292052 missense variant T/C snv 0.700 1.000 1 2016 2016
Sleep Apnea, Central
CUI: C0520680
Disease: Sleep Apnea, Central
17 0.851 0.200 13 101292052 missense variant T/C snv 0.700 1.000 1 2016 2016