XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587779351
rs587779351 		0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 1.000 4 2014 2015
dbSNP: rs797045017
rs797045017 		1.000 5 83195936 missense variant G/A;T snv 4.1E-06
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 0
dbSNP: rs768825050
rs768825050 		1.000 5 83204849 stop gained C/T snv 1.2E-05 2.8E-05
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs779773463
rs779773463 		1.000 5 83195935 stop gained C/T snv 8.1E-06 4.2E-05
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs797045016
rs797045016 		1.000 5 83258607 stop gained C/T snv
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs869320677
rs869320677 		1.000 5 83104943 frameshift variant C/- delins
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs869320678
rs869320678 		1.000 5 83104909 splice acceptor variant G/T snv
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs879255258
rs879255258 		1.000 5 83111134 missense variant T/A;G snv 4.1E-06
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs879255259
rs879255259 		1.000 5 83258544 frameshift variant G/- del
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0