SNP Links for Gene (Select 56882) - SNP

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Select item 14913672291.

rs1491367229 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:151051393 (GRCh38)
1:151023869 (GRCh37)
Canonical SPDI:: NC_000001.11:151051392:GA:
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.151051393_151051394del, NC_000001.10:g.151023869_151023870del, NM_017860.5:c.*935_*936del, NM_017860.3:c.*935_*936del, NM_020239.4:c.*1950_*1951del, NM_020239.3:c.*1950_*1951del, XM_017001847.3:c.*1950_*1951del, XM_017001847.2:c.*1950_*1951del, XM_017001847.1:c.*1950_*1951del, NM_001038707.2:c.*1950_*1951del, NM_001038707.1:c.*1950_*1951del

Select item 14911056472.

rs1491105647 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA,GAAA [Show Flanks]
Chromosome:: 1:151051393 (GRCh38)
1:151023870 (GRCh37)
Canonical SPDI:: NC_000001.11:151051393:A:AGAA,NC_000001.11:151051393:A:AGAAA
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AGAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.151051394_151051395insGAA, NC_000001.11:g.151051394_151051395insGAAA, NC_000001.10:g.151023870_151023871insGAA, NC_000001.10:g.151023870_151023871insGAAA, NM_017860.5:c.*936_*937insGAA, NM_017860.5:c.*936_*937insGAAA, NM_017860.3:c.*936_*937insGAA, NM_017860.3:c.*936_*937insGAAA, NM_020239.4:c.*1950_*1951insTCT, NM_020239.4:c.*1950_*1951insTTCT, NM_020239.3:c.*1950_*1951insTCT, NM_020239.3:c.*1950_*1951insTTCT, XM_017001847.3:c.*1950_*1951insTCT, XM_017001847.3:c.*1950_*1951insTTCT, XM_017001847.2:c.*1950_*1951insTCT, XM_017001847.2:c.*1950_*1951insTTCT, XM_017001847.1:c.*1950_*1951insTCT, XM_017001847.1:c.*1950_*1951insTTCT, NM_001038707.2:c.*1950_*1951insTCT, NM_001038707.2:c.*1950_*1951insTTCT, NM_001038707.1:c.*1950_*1951insTCT, NM_001038707.1:c.*1950_*1951insTTCT

Select item 14910301703.

rs1491030170 has merged into rs71702880 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:151051403 (GRCh38)
1:151023879 (GRCh37)
Canonical SPDI:: NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151051393:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.151051403_151051420del, NC_000001.11:g.151051404_151051420del, NC_000001.11:g.151051405_151051420del, NC_000001.11:g.151051406_151051420del, NC_000001.11:g.151051407_151051420del, NC_000001.11:g.151051408_151051420del, NC_000001.11:g.151051409_151051420del, NC_000001.11:g.151051410_151051420del, NC_000001.11:g.151051411_151051420del, NC_000001.11:g.151051412_151051420del, NC_000001.11:g.151051413_151051420del, NC_000001.11:g.151051414_151051420del, NC_000001.11:g.151051415_151051420del, NC_000001.11:g.151051416_151051420del, NC_000001.11:g.151051417_151051420del, NC_000001.11:g.151051418_151051420del, NC_000001.11:g.151051419_151051420del, NC_000001.11:g.151051420del, NC_000001.11:g.151051420dup, NC_000001.11:g.151051419_151051420dup, NC_000001.11:g.151051418_151051420dup, NC_000001.11:g.151051417_151051420dup, NC_000001.11:g.151051416_151051420dup, NC_000001.11:g.151051415_151051420dup, NC_000001.11:g.151051414_151051420dup, NC_000001.11:g.151051413_151051420dup, NC_000001.11:g.151051405_151051420dup, NC_000001.11:g.151051404_151051420dup, NC_000001.11:g.151051401_151051420dup, NC_000001.11:g.151051400_151051420dup, NC_000001.11:g.151051399_151051420dup, NC_000001.11:g.151051398_151051420dup, NC_000001.11:g.151051420_151051421insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.151051420_151051421insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151023879_151023896del, NC_000001.10:g.151023880_151023896del, NC_000001.10:g.151023881_151023896del, NC_000001.10:g.151023882_151023896del, NC_000001.10:g.151023883_151023896del, NC_000001.10:g.151023884_151023896del, NC_000001.10:g.151023885_151023896del, NC_000001.10:g.151023886_151023896del, NC_000001.10:g.151023887_151023896del, NC_000001.10:g.151023888_151023896del, NC_000001.10:g.151023889_151023896del, NC_000001.10:g.151023890_151023896del, NC_000001.10:g.151023891_151023896del, NC_000001.10:g.151023892_151023896del, NC_000001.10:g.151023893_151023896del, NC_000001.10:g.151023894_151023896del, NC_000001.10:g.151023895_151023896del, NC_000001.10:g.151023896del, NC_000001.10:g.151023896dup, NC_000001.10:g.151023895_151023896dup, NC_000001.10:g.151023894_151023896dup, NC_000001.10:g.151023893_151023896dup, NC_000001.10:g.151023892_151023896dup, NC_000001.10:g.151023891_151023896dup, NC_000001.10:g.151023890_151023896dup, NC_000001.10:g.151023889_151023896dup, NC_000001.10:g.151023881_151023896dup, NC_000001.10:g.151023880_151023896dup, NC_000001.10:g.151023877_151023896dup, NC_000001.10:g.151023876_151023896dup, NC_000001.10:g.151023875_151023896dup, NC_000001.10:g.151023874_151023896dup, NC_000001.10:g.151023896_151023897insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151023896_151023897insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_017860.5:c.*945_*962del, NM_017860.5:c.*946_*962del, NM_017860.5:c.*947_*962del, NM_017860.5:c.*948_*962del, NM_017860.5:c.*949_*962del, NM_017860.5:c.*950_*962del, NM_017860.5:c.*951_*962del, NM_017860.5:c.*952_*962del, NM_017860.5:c.*953_*962del, NM_017860.5:c.*954_*962del, NM_017860.5:c.*955_*962del, NM_017860.5:c.*956_*962del, NM_017860.5:c.*957_*962del, NM_017860.5:c.*958_*962del, NM_017860.5:c.*959_*962del, NM_017860.5:c.*960_*962del, NM_017860.5:c.*961_*962del, NM_017860.5:c.*962del, NM_017860.5:c.*962dup, NM_017860.5:c.*961_*962dup, NM_017860.5:c.*960_*962dup, NM_017860.5:c.*959_*962dup, NM_017860.5:c.*958_*962dup, NM_017860.5:c.*957_*962dup, NM_017860.5:c.*956_*962dup, NM_017860.5:c.*955_*962dup, NM_017860.5:c.*947_*962dup, NM_017860.5:c.*946_*962dup, NM_017860.5:c.*943_*962dup, NM_017860.5:c.*942_*962dup, NM_017860.5:c.*941_*962dup, NM_017860.5:c.*940_*962dup, NM_017860.5:c.*962_*963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_017860.5:c.*962_*963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_017860.3:c.*947_*964del, NM_017860.3:c.*948_*964del, NM_017860.3:c.*949_*964del, NM_017860.3:c.*950_*964del, NM_017860.3:c.*951_*964del, NM_017860.3:c.*952_*964del, NM_017860.3:c.*953_*964del, NM_017860.3:c.*954_*964del, NM_017860.3:c.*955_*964del, NM_017860.3:c.*956_*964del, NM_017860.3:c.*957_*964del, NM_017860.3:c.*958_*964del, NM_017860.3:c.*959_*964del, NM_017860.3:c.*960_*964del, NM_017860.3:c.*961_*964del, NM_017860.3:c.*962_*964del, NM_017860.3:c.*963_*964del, NM_017860.3:c.*964del, NM_017860.3:c.*964dup, NM_017860.3:c.*963_*964dup, NM_017860.3:c.*962_*964dup, NM_017860.3:c.*961_*964dup, NM_017860.3:c.*960_*964dup, NM_017860.3:c.*959_*964dup, NM_017860.3:c.*958_*964dup, NM_017860.3:c.*957_*964dup, NM_017860.3:c.*949_*964dup, NM_017860.3:c.*948_*964dup, NM_017860.3:c.*945_*964dup, NM_017860.3:c.*944_*964dup, NM_017860.3:c.*943_*964dup, NM_017860.3:c.*942_*964dup, NM_017860.3:c.*964_*965insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_017860.3:c.*964_*965insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_020239.4:c.*1933_*1950del, NM_020239.4:c.*1934_*1950del, NM_020239.4:c.*1935_*1950del, NM_020239.4:c.*1936_*1950del, NM_020239.4:c.*1937_*1950del, NM_020239.4:c.*1938_*1950del, NM_020239.4:c.*1939_*1950del, NM_020239.4:c.*1940_*1950del, NM_020239.4:c.*1941_*1950del, NM_020239.4:c.*1942_*1950del, NM_020239.4:c.*1943_*1950del, NM_020239.4:c.*1944_*1950del, NM_020239.4:c.*1945_*1950del, NM_020239.4:c.*1946_*1950del, NM_020239.4:c.*1947_*1950del, NM_020239.4:c.*1948_*1950del, NM_020239.4:c.*1949_*1950del, NM_020239.4:c.*1950del, NM_020239.4:c.*1950dup, NM_020239.4:c.*1949_*1950dup, NM_020239.4:c.*1948_*1950dup, NM_020239.4:c.*1947_*1950dup, NM_020239.4:c.*1946_*1950dup, NM_020239.4:c.*1945_*1950dup, NM_020239.4:c.*1944_*1950dup, NM_020239.4:c.*1943_*1950dup, NM_020239.4:c.*1935_*1950dup, NM_020239.4:c.*1934_*1950dup, NM_020239.4:c.*1931_*1950dup, NM_020239.4:c.*1930_*1950dup, NM_020239.4:c.*1929_*1950dup, NM_020239.4:c.*1928_*1950dup, NM_020239.4:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_020239.4:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_020239.3:c.*1933_*1950del, NM_020239.3:c.*1934_*1950del, NM_020239.3:c.*1935_*1950del, NM_020239.3:c.*1936_*1950del, NM_020239.3:c.*1937_*1950del, NM_020239.3:c.*1938_*1950del, NM_020239.3:c.*1939_*1950del, NM_020239.3:c.*1940_*1950del, NM_020239.3:c.*1941_*1950del, NM_020239.3:c.*1942_*1950del, NM_020239.3:c.*1943_*1950del, NM_020239.3:c.*1944_*1950del, NM_020239.3:c.*1945_*1950del, NM_020239.3:c.*1946_*1950del, NM_020239.3:c.*1947_*1950del, NM_020239.3:c.*1948_*1950del, NM_020239.3:c.*1949_*1950del, NM_020239.3:c.*1950del, NM_020239.3:c.*1950dup, NM_020239.3:c.*1949_*1950dup, NM_020239.3:c.*1948_*1950dup, NM_020239.3:c.*1947_*1950dup, NM_020239.3:c.*1946_*1950dup, NM_020239.3:c.*1945_*1950dup, NM_020239.3:c.*1944_*1950dup, NM_020239.3:c.*1943_*1950dup, NM_020239.3:c.*1935_*1950dup, NM_020239.3:c.*1934_*1950dup, NM_020239.3:c.*1931_*1950dup, NM_020239.3:c.*1930_*1950dup, NM_020239.3:c.*1929_*1950dup, NM_020239.3:c.*1928_*1950dup, NM_020239.3:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_020239.3:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017001847.3:c.*1933_*1950del, XM_017001847.3:c.*1934_*1950del, XM_017001847.3:c.*1935_*1950del, XM_017001847.3:c.*1936_*1950del, XM_017001847.3:c.*1937_*1950del, XM_017001847.3:c.*1938_*1950del, XM_017001847.3:c.*1939_*1950del, XM_017001847.3:c.*1940_*1950del, XM_017001847.3:c.*1941_*1950del, XM_017001847.3:c.*1942_*1950del, XM_017001847.3:c.*1943_*1950del, XM_017001847.3:c.*1944_*1950del, XM_017001847.3:c.*1945_*1950del, XM_017001847.3:c.*1946_*1950del, XM_017001847.3:c.*1947_*1950del, XM_017001847.3:c.*1948_*1950del, XM_017001847.3:c.*1949_*1950del, XM_017001847.3:c.*1950del, XM_017001847.3:c.*1950dup, XM_017001847.3:c.*1949_*1950dup, XM_017001847.3:c.*1948_*1950dup, XM_017001847.3:c.*1947_*1950dup, XM_017001847.3:c.*1946_*1950dup, XM_017001847.3:c.*1945_*1950dup, XM_017001847.3:c.*1944_*1950dup, XM_017001847.3:c.*1943_*1950dup, XM_017001847.3:c.*1935_*1950dup, XM_017001847.3:c.*1934_*1950dup, XM_017001847.3:c.*1931_*1950dup, XM_017001847.3:c.*1930_*1950dup, XM_017001847.3:c.*1929_*1950dup, XM_017001847.3:c.*1928_*1950dup, XM_017001847.3:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017001847.3:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017001847.2:c.*1933_*1950del, XM_017001847.2:c.*1934_*1950del, XM_017001847.2:c.*1935_*1950del, XM_017001847.2:c.*1936_*1950del, XM_017001847.2:c.*1937_*1950del, XM_017001847.2:c.*1938_*1950del, XM_017001847.2:c.*1939_*1950del, XM_017001847.2:c.*1940_*1950del, XM_017001847.2:c.*1941_*1950del, XM_017001847.2:c.*1942_*1950del, XM_017001847.2:c.*1943_*1950del, XM_017001847.2:c.*1944_*1950del, XM_017001847.2:c.*1945_*1950del, XM_017001847.2:c.*1946_*1950del, XM_017001847.2:c.*1947_*1950del, XM_017001847.2:c.*1948_*1950del, XM_017001847.2:c.*1949_*1950del, XM_017001847.2:c.*1950del, XM_017001847.2:c.*1950dup, XM_017001847.2:c.*1949_*1950dup, XM_017001847.2:c.*1948_*1950dup, XM_017001847.2:c.*1947_*1950dup, XM_017001847.2:c.*1946_*1950dup, XM_017001847.2:c.*1945_*1950dup, XM_017001847.2:c.*1944_*1950dup, XM_017001847.2:c.*1943_*1950dup, XM_017001847.2:c.*1935_*1950dup, XM_017001847.2:c.*1934_*1950dup, XM_017001847.2:c.*1931_*1950dup, XM_017001847.2:c.*1930_*1950dup, XM_017001847.2:c.*1929_*1950dup, XM_017001847.2:c.*1928_*1950dup, XM_017001847.2:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017001847.2:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017001847.1:c.*1933_*1950del, XM_017001847.1:c.*1934_*1950del, XM_017001847.1:c.*1935_*1950del, XM_017001847.1:c.*1936_*1950del, XM_017001847.1:c.*1937_*1950del, XM_017001847.1:c.*1938_*1950del, XM_017001847.1:c.*1939_*1950del, XM_017001847.1:c.*1940_*1950del, XM_017001847.1:c.*1941_*1950del, XM_017001847.1:c.*1942_*1950del, XM_017001847.1:c.*1943_*1950del, XM_017001847.1:c.*1944_*1950del, XM_017001847.1:c.*1945_*1950del, XM_017001847.1:c.*1946_*1950del, XM_017001847.1:c.*1947_*1950del, XM_017001847.1:c.*1948_*1950del, XM_017001847.1:c.*1949_*1950del, XM_017001847.1:c.*1950del, XM_017001847.1:c.*1950dup, XM_017001847.1:c.*1949_*1950dup, XM_017001847.1:c.*1948_*1950dup, XM_017001847.1:c.*1947_*1950dup, XM_017001847.1:c.*1946_*1950dup, XM_017001847.1:c.*1945_*1950dup, XM_017001847.1:c.*1944_*1950dup, XM_017001847.1:c.*1943_*1950dup, XM_017001847.1:c.*1935_*1950dup, XM_017001847.1:c.*1934_*1950dup, XM_017001847.1:c.*1931_*1950dup, XM_017001847.1:c.*1930_*1950dup, XM_017001847.1:c.*1929_*1950dup, XM_017001847.1:c.*1928_*1950dup, XM_017001847.1:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017001847.1:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001038707.2:c.*1933_*1950del, NM_001038707.2:c.*1934_*1950del, NM_001038707.2:c.*1935_*1950del, NM_001038707.2:c.*1936_*1950del, NM_001038707.2:c.*1937_*1950del, NM_001038707.2:c.*1938_*1950del, NM_001038707.2:c.*1939_*1950del, NM_001038707.2:c.*1940_*1950del, NM_001038707.2:c.*1941_*1950del, NM_001038707.2:c.*1942_*1950del, NM_001038707.2:c.*1943_*1950del, NM_001038707.2:c.*1944_*1950del, NM_001038707.2:c.*1945_*1950del, NM_001038707.2:c.*1946_*1950del, NM_001038707.2:c.*1947_*1950del, NM_001038707.2:c.*1948_*1950del, NM_001038707.2:c.*1949_*1950del, NM_001038707.2:c.*1950del, NM_001038707.2:c.*1950dup, NM_001038707.2:c.*1949_*1950dup, NM_001038707.2:c.*1948_*1950dup, NM_001038707.2:c.*1947_*1950dup, NM_001038707.2:c.*1946_*1950dup, NM_001038707.2:c.*1945_*1950dup, NM_001038707.2:c.*1944_*1950dup, NM_001038707.2:c.*1943_*1950dup, NM_001038707.2:c.*1935_*1950dup, NM_001038707.2:c.*1934_*1950dup, NM_001038707.2:c.*1931_*1950dup, NM_001038707.2:c.*1930_*1950dup, NM_001038707.2:c.*1929_*1950dup, NM_001038707.2:c.*1928_*1950dup, NM_001038707.2:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001038707.2:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001038707.1:c.*1933_*1950del, NM_001038707.1:c.*1934_*1950del, NM_001038707.1:c.*1935_*1950del, NM_001038707.1:c.*1936_*1950del, NM_001038707.1:c.*1937_*1950del, NM_001038707.1:c.*1938_*1950del, NM_001038707.1:c.*1939_*1950del, NM_001038707.1:c.*1940_*1950del, NM_001038707.1:c.*1941_*1950del, NM_001038707.1:c.*1942_*1950del, NM_001038707.1:c.*1943_*1950del, NM_001038707.1:c.*1944_*1950del, NM_001038707.1:c.*1945_*1950del, NM_001038707.1:c.*1946_*1950del, NM_001038707.1:c.*1947_*1950del, NM_001038707.1:c.*1948_*1950del, NM_001038707.1:c.*1949_*1950del, NM_001038707.1:c.*1950del, NM_001038707.1:c.*1950dup, NM_001038707.1:c.*1949_*1950dup, NM_001038707.1:c.*1948_*1950dup, NM_001038707.1:c.*1947_*1950dup, NM_001038707.1:c.*1946_*1950dup, NM_001038707.1:c.*1945_*1950dup, NM_001038707.1:c.*1944_*1950dup, NM_001038707.1:c.*1943_*1950dup, NM_001038707.1:c.*1935_*1950dup, NM_001038707.1:c.*1934_*1950dup, NM_001038707.1:c.*1931_*1950dup, NM_001038707.1:c.*1930_*1950dup, NM_001038707.1:c.*1929_*1950dup, NM_001038707.1:c.*1928_*1950dup, NM_001038707.1:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001038707.1:c.*1950_*1951insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14898551314.

rs1489855131 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 1:151056465 (GRCh38)
1:151028941 (GRCh37)
Canonical SPDI:: NC_000001.11:151056461:TTTCTTT:TTT
Gene:: CDC42SE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151056465_151056468del, NC_000001.10:g.151028941_151028944del

Select item 14897091425.

rs1489709142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:151050795 (GRCh38)
1:151023271 (GRCh37)
Canonical SPDI:: NC_000001.11:151050794:G:A,NC_000001.11:151050794:G:T
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151050795G>A, NC_000001.11:g.151050795G>T, NC_000001.10:g.151023271G>A, NC_000001.10:g.151023271G>T, NM_017860.5:c.*337G>A, NM_017860.5:c.*337G>T, NM_017860.4:c.*337G>A, NM_017860.4:c.*337G>T, NM_017860.3:c.*337G>A, NM_017860.3:c.*337G>T

Select item 14894498666.

rs1489449866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151055311 (GRCh38)
1:151027787 (GRCh37)
Canonical SPDI:: NC_000001.11:151055310:A:G
Gene:: CDC42SE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000034/9 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.151055311A>G, NC_000001.10:g.151027787A>G

Select item 14889364007.

rs1488936400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151057163 (GRCh38)
1:151029639 (GRCh37)
Canonical SPDI:: NC_000001.11:151057162:G:C
Gene:: CDC42SE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151057163G>C, NC_000001.10:g.151029639G>C

Select item 14880768508.

rs1488076850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151061149 (GRCh38)
1:151033625 (GRCh37)
Canonical SPDI:: NC_000001.11:151061148:G:C
Gene:: MLLT11 (Varview), CDC42SE1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.151061149G>C, NC_000001.10:g.151033625G>C

Select item 14877034549.

rs1487703454 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:151052863 (GRCh38)
1:151025339 (GRCh37)
Canonical SPDI:: NC_000001.11:151052862:A:T
Gene:: CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151052863A>T, NC_000001.10:g.151025339A>T, NM_020239.4:c.*481T>A, NM_020239.3:c.*481T>A, XM_017001847.3:c.*481T>A, XM_017001847.2:c.*481T>A, XM_017001847.1:c.*481T>A, NM_001038707.2:c.*481T>A, NM_001038707.1:c.*481T>A

Select item 148697714410.

rs1486977144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151057963 (GRCh38)
1:151030439 (GRCh37)
Canonical SPDI:: NC_000001.11:151057962:G:A
Gene:: CDC42SE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151057963G>A, NC_000001.10:g.151030439G>A

Select item 148636885311.

rs1486368853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151057981 (GRCh38)
1:151030457 (GRCh37)
Canonical SPDI:: NC_000001.11:151057980:G:A
Gene:: CDC42SE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151057981G>A, NC_000001.10:g.151030457G>A

Select item 148624633512.

rs1486246335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151054494 (GRCh38)
1:151026970 (GRCh37)
Canonical SPDI:: NC_000001.11:151054493:A:G
Gene:: CDC42SE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151054494A>G, NC_000001.10:g.151026970A>G

Select item 148585925113.

rs1485859251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:151059529 (GRCh38)
1:151032005 (GRCh37)
Canonical SPDI:: NC_000001.11:151059528:G:A,NC_000001.11:151059528:G:T
Gene:: MLLT11 (Varview), CDC42SE1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151059529G>A, NC_000001.11:g.151059529G>T, NC_000001.10:g.151032005G>A, NC_000001.10:g.151032005G>T, NM_020239.4:c.-314C>T, NM_020239.4:c.-314C>A, NM_020239.3:c.-314C>T, NM_020239.3:c.-314C>A, XM_017001847.3:c.-445C>T, XM_017001847.3:c.-445C>A, XM_017001847.2:c.-445C>T, XM_017001847.2:c.-445C>A, XM_017001847.1:c.-445C>T, XM_017001847.1:c.-445C>A, NM_001038707.2:c.-450C>T, NM_001038707.2:c.-450C>A, NM_001038707.1:c.-450C>T, NM_001038707.1:c.-450C>A

Select item 148562399714.

rs1485623997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151050644 (GRCh38)
1:151023120 (GRCh37)
Canonical SPDI:: NC_000001.11:151050643:C:T
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151050644C>T, NC_000001.10:g.151023120C>T, NM_017860.5:c.*186C>T, NM_017860.4:c.*186C>T, NM_017860.3:c.*186C>T

Select item 148532351815.

rs1485323518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151051449 (GRCh38)
1:151023925 (GRCh37)
Canonical SPDI:: NC_000001.11:151051448:A:G
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.151051449A>G, NC_000001.10:g.151023925A>G, NM_020239.4:c.*1895T>C, NM_020239.3:c.*1895T>C, XM_017001847.3:c.*1895T>C, XM_017001847.2:c.*1895T>C, XM_017001847.1:c.*1895T>C, NM_001038707.2:c.*1895T>C, NM_001038707.1:c.*1895T>C

Select item 148526724216.

rs1485267242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151055097 (GRCh38)
1:151027573 (GRCh37)
Canonical SPDI:: NC_000001.11:151055096:G:A
Gene:: CDC42SE1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151055097G>A, NC_000001.10:g.151027573G>A, NM_020239.4:c.84C>T, NM_020239.3:c.84C>T, XM_017001847.3:c.84C>T, XM_017001847.2:c.84C>T, XM_017001847.1:c.84C>T, NM_001038707.2:c.84C>T, NM_001038707.1:c.84C>T

Select item 148522688217.

rs1485226882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151054099 (GRCh38)
1:151026575 (GRCh37)
Canonical SPDI:: NC_000001.11:151054098:G:A
Gene:: CDC42SE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151054099G>A, NC_000001.10:g.151026575G>A

Select item 148413241918.

rs1484132419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151051396 (GRCh38)
1:151023872 (GRCh37)
Canonical SPDI:: NC_000001.11:151051395:A:G
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151051396A>G, NC_000001.10:g.151023872A>G, NM_017860.5:c.*938A>G, NM_017860.3:c.*938A>G, NM_020239.4:c.*1948T>C, NM_020239.3:c.*1948T>C, XM_017001847.3:c.*1948T>C, XM_017001847.2:c.*1948T>C, XM_017001847.1:c.*1948T>C, NM_001038707.2:c.*1948T>C, NM_001038707.1:c.*1948T>C

Select item 148381815919.

rs1483818159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151056459 (GRCh38)
1:151028935 (GRCh37)
Canonical SPDI:: NC_000001.11:151056458:G:C
Gene:: CDC42SE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151056459G>C, NC_000001.10:g.151028935G>C

Select item 148295315320.

rs1482953153 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:151060751 (GRCh38)
1:151033227 (GRCh37)
Canonical SPDI:: NC_000001.11:151060750:TT:
Gene:: MLLT11 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151060751_151060752del, NC_000001.10:g.151033227_151033228del

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