rs1164484724, MAN1B1

N. diseases: 13
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.
Abnormal isoelectric focusing of serum transferrin
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
10 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Eversion of lower lip
CUI: C1853246
Disease: Eversion of lower lip
3 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Genu recurvatum
CUI: C0546964
Disease: Genu recurvatum
4 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
CUI: C3280127
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
7 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Motor retardation
CUI: C0424230
Disease: Motor retardation
8 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Peg-shaped teeth
CUI: C0266037
Disease: Peg-shaped teeth
2 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0