rs80338945, GJB2

N. diseases: 32
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 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
Short distal phalanx of the 5th finger
CUI: C1836674
Disease: Short distal phalanx of the 5th finger
2 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
Short palpebral fissure
CUI: C0423112
Disease: Short palpebral fissure
16 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
Temporal hypotrichosis
CUI: C4025316
Disease: Temporal hypotrichosis
2 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.720 1.000 2 2005 2007
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
98 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.800 1.000 17 1998 2014