Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518701
rs1057518701
SHOX
1 1.000 0.080 Y 640879 splice donor variant G/A snv 0.700 0
dbSNP: rs111549748
rs111549748
SHOX
1 1.000 0.080 Y 624528 5 prime UTR variant G/C snv 0.700 0
dbSNP: rs113313554
rs113313554
SHOX
1 1.000 0.080 Y 624523 5 prime UTR variant C/A;T snv 0.700 0
dbSNP: rs137852552
rs137852552
SHOX
2 1.000 0.080 Y 641037 stop gained C/A;T snv 0.700 0
dbSNP: rs1556450972
rs1556450972
SHOX
1 1.000 0.080 Y 624388 5 prime UTR variant -/GTT delins 0.700 0
dbSNP: rs778921118
rs778921118
SHOX
1 1.000 0.080 Y 640862 missense variant G/C;T snv 0.700 0
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2012 2012
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2013 2013