rs72561723, GJB2

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.
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.780 1.000 8 2006 2019
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.700 1.000 7 1999 2011
Keratitis-Ichthyosis-Deafness Syndrome
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
12 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.100 1.000 11 2006 2019
Keratitis
CUI: C0022568
Disease: Keratitis
10 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.030 1.000 3 2008 2013
Alopecia
CUI: C0002170
Disease: Alopecia
375 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011
Porokeratotic eccrine ostial and dermal duct nevus
CUI: C0473579
Disease: Porokeratotic eccrine ostial and dermal duct nevus
2 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005