Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_017774.3:c.371+11642G>C | 968 | 0.31 | ||
NM_017774.3:c.371+30101A>G | 934 | 0.3 | ||
NM_001146274.1:c.450+33966C>T | 1201 | 0.4 | ||
NM_001146274.1:c.450+31658A>T | 1230 | 0.41 | ||
NM_001146274.1:c.450+29705T>C | 1223 | 0.41 | ||
NM_017774.3:c.371+36965C>A | 913 | 0.29 | ||
NM_017774.3:c.371+31070T>A | 0.29 | |||
NM_017774.3:c.371+26184C>A | 0.29 | |||
NM_017774.3:c.371+24272T>C | 0.29 | |||
NM_017774.3:c.371+29702T>G | 0.38 | |||
NM_017774.3:c.371+37388C>A | 896 | 0.29 | ||
NM_017774.3:c.371+33556G>A | 0.37 | |||
NM_017774.3:c.371+11082G>A | 0.38 | |||
NM_017774.3:c.371+10757T>C | 0.38 | |||
NM_017774.3:c.371+10198T>C | 0.31 | |||
NM_017774.3:c.371+8404A>C | 0.38 | |||
NM_017774.3:c.371+12609T>C | 0.3 | |||
NM_017774.3:c.371+3109C>G | 941 | 0.31 | ||
NM_017774.3:c.371+9979T>A | 0.31 | |||
NM_017774.3:c.371+11312C>A | 0.37 | |||
NM_017774.3:c.371+16414G>A | 0.31 | |||
NM_001146274.1:c.450+29688T>C | 1198 | 0.4 | ||
NM_001146274.1:c.450+30401T>C | 0.4 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
125853.G.14.2 | Lebanon | Unknown | Group consisting of 1902 healthy control subjects |