Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs35095494
rs35095494
ACKR3
1.000 0.160 2 236581153 missense variant G/A;T snv 4.0E-03
CUI: C1845202
Disease: Nephrogenic Syndrome of Inappropriate Antidiuresis
Nephrogenic Syndrome of Inappropriate Antidiuresis 		0.010 1.000 1 2019 2019
dbSNP: rs771600279
rs771600279
ACKR3
1.000 0.080 2 236581483 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.010 1.000 1 2013 2013
dbSNP: rs771600279
rs771600279
ACKR3
1.000 0.080 2 236581483 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		0.010 1.000 1 2013 2013
dbSNP: rs935677460
rs935677460
ACKR3
2 236581132 missense variant G/A;C snv 1.6E-05; 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011