SNP Links for Gene (Select 25836) - SNP

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Select item 14915821391.

rs1491582139 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTGATT [Show Flanks]
Chromosome:: 5:36894362 (GRCh38)
5:36894465 (GRCh37)
Canonical SPDI:: NC_000005.10:36894362:TTGATT:TTGATTATTGATT
Gene:: NIPBL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTGATTATTGATT=0./0 (ALFA)
TTGATTA=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36894368_36894369insATTGATT, NC_000005.9:g.36894470_36894471insATTGATT, NG_006987.2:g.22486_22487insATTGATT

Select item 14915724172.

rs1491572417 has merged into rs11291612 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:37030929 (GRCh38)
5:37031031 (GRCh37)
Canonical SPDI:: NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37030919:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.37030929_37030943del, NC_000005.10:g.37030930_37030943del, NC_000005.10:g.37030931_37030943del, NC_000005.10:g.37030932_37030943del, NC_000005.10:g.37030933_37030943del, NC_000005.10:g.37030934_37030943del, NC_000005.10:g.37030937_37030943del, NC_000005.10:g.37030938_37030943del, NC_000005.10:g.37030939_37030943del, NC_000005.10:g.37030940_37030943del, NC_000005.10:g.37030941_37030943del, NC_000005.10:g.37030942_37030943del, NC_000005.10:g.37030943del, NC_000005.10:g.37030920_37030943T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.37030943dup, NC_000005.10:g.37030942_37030943dup, NC_000005.10:g.37030941_37030943dup, NC_000005.10:g.37030940_37030943dup, NC_000005.10:g.37030939_37030943dup, NC_000005.10:g.37030938_37030943dup, NC_000005.10:g.37030937_37030943dup, NC_000005.10:g.37030920_37030943T[48]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.37031031_37031045del, NC_000005.9:g.37031032_37031045del, NC_000005.9:g.37031033_37031045del, NC_000005.9:g.37031034_37031045del, NC_000005.9:g.37031035_37031045del, NC_000005.9:g.37031036_37031045del, NC_000005.9:g.37031039_37031045del, NC_000005.9:g.37031040_37031045del, NC_000005.9:g.37031041_37031045del, NC_000005.9:g.37031042_37031045del, NC_000005.9:g.37031043_37031045del, NC_000005.9:g.37031044_37031045del, NC_000005.9:g.37031045del, NC_000005.9:g.37031022_37031045T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.37031045dup, NC_000005.9:g.37031044_37031045dup, NC_000005.9:g.37031043_37031045dup, NC_000005.9:g.37031042_37031045dup, NC_000005.9:g.37031041_37031045dup, NC_000005.9:g.37031040_37031045dup, NC_000005.9:g.37031039_37031045dup, NC_000005.9:g.37031022_37031045T[48]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_006987.2:g.159047_159061del, NG_006987.2:g.159048_159061del, NG_006987.2:g.159049_159061del, NG_006987.2:g.159050_159061del, NG_006987.2:g.159051_159061del, NG_006987.2:g.159052_159061del, NG_006987.2:g.159055_159061del, NG_006987.2:g.159056_159061del, NG_006987.2:g.159057_159061del, NG_006987.2:g.159058_159061del, NG_006987.2:g.159059_159061del, NG_006987.2:g.159060_159061del, NG_006987.2:g.159061del, NG_006987.2:g.159038_159061T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_006987.2:g.159061dup, NG_006987.2:g.159060_159061dup, NG_006987.2:g.159059_159061dup, NG_006987.2:g.159058_159061dup, NG_006987.2:g.159057_159061dup, NG_006987.2:g.159056_159061dup, NG_006987.2:g.159055_159061dup, NG_006987.2:g.159038_159061T[48]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14915211613.

rs1491521161 has merged into rs58081432 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:37033737 (GRCh38)
5:37033839 (GRCh37)
Canonical SPDI:: NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
TT=0.2941/10 (GENOME_DK)
HGVS:: NC_000005.10:g.37033737_37033750del, NC_000005.10:g.37033739_37033750del, NC_000005.10:g.37033741_37033750del, NC_000005.10:g.37033742_37033750del, NC_000005.10:g.37033743_37033750del, NC_000005.10:g.37033744_37033750del, NC_000005.10:g.37033745_37033750del, NC_000005.10:g.37033746_37033750del, NC_000005.10:g.37033747_37033750del, NC_000005.10:g.37033748_37033750del, NC_000005.10:g.37033749_37033750del, NC_000005.10:g.37033750del, NC_000005.10:g.37033750dup, NC_000005.10:g.37033749_37033750dup, NC_000005.10:g.37033748_37033750dup, NC_000005.10:g.37033747_37033750dup, NC_000005.10:g.37033746_37033750dup, NC_000005.10:g.37033745_37033750dup, NC_000005.10:g.37033744_37033750dup, NC_000005.10:g.37033743_37033750dup, NC_000005.10:g.37033742_37033750dup, NC_000005.10:g.37033741_37033750dup, NC_000005.10:g.37033740_37033750dup, NC_000005.10:g.37033739_37033750dup, NC_000005.10:g.37033738_37033750dup, NC_000005.9:g.37033839_37033852del, NC_000005.9:g.37033841_37033852del, NC_000005.9:g.37033843_37033852del, NC_000005.9:g.37033844_37033852del, NC_000005.9:g.37033845_37033852del, NC_000005.9:g.37033846_37033852del, NC_000005.9:g.37033847_37033852del, NC_000005.9:g.37033848_37033852del, NC_000005.9:g.37033849_37033852del, NC_000005.9:g.37033850_37033852del, NC_000005.9:g.37033851_37033852del, NC_000005.9:g.37033852del, NC_000005.9:g.37033852dup, NC_000005.9:g.37033851_37033852dup, NC_000005.9:g.37033850_37033852dup, NC_000005.9:g.37033849_37033852dup, NC_000005.9:g.37033848_37033852dup, NC_000005.9:g.37033847_37033852dup, NC_000005.9:g.37033846_37033852dup, NC_000005.9:g.37033845_37033852dup, NC_000005.9:g.37033844_37033852dup, NC_000005.9:g.37033843_37033852dup, NC_000005.9:g.37033842_37033852dup, NC_000005.9:g.37033841_37033852dup, NC_000005.9:g.37033840_37033852dup, NG_006987.2:g.161855_161868del, NG_006987.2:g.161857_161868del, NG_006987.2:g.161859_161868del, NG_006987.2:g.161860_161868del, NG_006987.2:g.161861_161868del, NG_006987.2:g.161862_161868del, NG_006987.2:g.161863_161868del, NG_006987.2:g.161864_161868del, NG_006987.2:g.161865_161868del, NG_006987.2:g.161866_161868del, NG_006987.2:g.161867_161868del, NG_006987.2:g.161868del, NG_006987.2:g.161868dup, NG_006987.2:g.161867_161868dup, NG_006987.2:g.161866_161868dup, NG_006987.2:g.161865_161868dup, NG_006987.2:g.161864_161868dup, NG_006987.2:g.161863_161868dup, NG_006987.2:g.161862_161868dup, NG_006987.2:g.161861_161868dup, NG_006987.2:g.161860_161868dup, NG_006987.2:g.161859_161868dup, NG_006987.2:g.161858_161868dup, NG_006987.2:g.161857_161868dup, NG_006987.2:g.161856_161868dup

Select item 14915195804.

rs1491519580 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:37013045 (GRCh38)
5:37013148 (GRCh37)
Canonical SPDI:: NC_000005.10:37013045::A
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.37013045_37013046insA, NC_000005.9:g.37013147_37013148insA, NG_006987.2:g.141163_141164insA

Select item 14914844245.

rs1491484424 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGAGA [Show Flanks]
Chromosome:: 5:37014200 (GRCh38)
5:37014303 (GRCh37)
Canonical SPDI:: NC_000005.10:37014200:GAGAGGGAGAGGGAGA:GAGAGGGAGAGGGAGAGGGAGA
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGAGGGAGAGGGAGAGGGAGA=0.000084/1 (ALFA)
GAGAGG=0.000136/19 (GnomAD)
HGVS:: NC_000005.10:g.37014205GGGAGA[3], NC_000005.9:g.37014307GGGAGA[3], NG_006987.2:g.142323GGGAGA[3]

Select item 14914768976.

rs1491476897 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:36968095 (GRCh38)
5:36968197 (GRCh37)
Canonical SPDI:: NC_000005.10:36968094:CA:
Gene:: NIPBL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000005.10:g.36968095_36968096del, NC_000005.9:g.36968197_36968198del, NG_006987.2:g.96213_96214del

Select item 14914466767.

rs1491446676 has merged into rs70976272 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:37041878 (GRCh38)
5:37041980 (GRCh37)
Canonical SPDI:: NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTT,NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:37041870:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.166625/669 (1000Genomes)
HGVS:: NC_000005.10:g.37041878_37041884del, NC_000005.10:g.37041881_37041884del, NC_000005.10:g.37041882_37041884del, NC_000005.10:g.37041883_37041884del, NC_000005.10:g.37041884del, NC_000005.10:g.37041884dup, NC_000005.10:g.37041883_37041884dup, NC_000005.10:g.37041882_37041884dup, NC_000005.10:g.37041880_37041884dup, NC_000005.9:g.37041980_37041986del, NC_000005.9:g.37041983_37041986del, NC_000005.9:g.37041984_37041986del, NC_000005.9:g.37041985_37041986del, NC_000005.9:g.37041986del, NC_000005.9:g.37041986dup, NC_000005.9:g.37041985_37041986dup, NC_000005.9:g.37041984_37041986dup, NC_000005.9:g.37041982_37041986dup, NG_006987.2:g.169996_170002del, NG_006987.2:g.169999_170002del, NG_006987.2:g.170000_170002del, NG_006987.2:g.170001_170002del, NG_006987.2:g.170002del, NG_006987.2:g.170002dup, NG_006987.2:g.170001_170002dup, NG_006987.2:g.170000_170002dup, NG_006987.2:g.169998_170002dup

Select item 14914180208.

rs1491418020 has merged into rs141750225 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:36957995 (GRCh38)
5:36958097 (GRCh37)
Canonical SPDI:: NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3554/1780 (1000Genomes)
HGVS:: NC_000005.10:g.36957995_36958001del, NC_000005.10:g.36957996_36958001del, NC_000005.10:g.36957997_36958001del, NC_000005.10:g.36957998_36958001del, NC_000005.10:g.36957999_36958001del, NC_000005.10:g.36958000_36958001del, NC_000005.10:g.36958001del, NC_000005.10:g.36958001dup, NC_000005.10:g.36957999_36958001dup, NC_000005.10:g.36957994_36958001dup, NC_000005.9:g.36958097_36958103del, NC_000005.9:g.36958098_36958103del, NC_000005.9:g.36958099_36958103del, NC_000005.9:g.36958100_36958103del, NC_000005.9:g.36958101_36958103del, NC_000005.9:g.36958102_36958103del, NC_000005.9:g.36958103del, NC_000005.9:g.36958103dup, NC_000005.9:g.36958101_36958103dup, NC_000005.9:g.36958096_36958103dup, NG_006987.2:g.86113_86119del, NG_006987.2:g.86114_86119del, NG_006987.2:g.86115_86119del, NG_006987.2:g.86116_86119del, NG_006987.2:g.86117_86119del, NG_006987.2:g.86118_86119del, NG_006987.2:g.86119del, NG_006987.2:g.86119dup, NG_006987.2:g.86117_86119dup, NG_006987.2:g.86112_86119dup

Select item 14913899779.

rs1491389977 has merged into rs60067315 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 5:36952033 (GRCh38)
5:36952135 (GRCh37)
Canonical SPDI:: NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:36952018:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000005.10:g.36952019TG[7], NC_000005.10:g.36952019TG[9], NC_000005.10:g.36952019TG[10], NC_000005.10:g.36952019TG[11], NC_000005.10:g.36952019TG[12], NC_000005.10:g.36952019TG[13], NC_000005.10:g.36952019TG[14], NC_000005.10:g.36952019TG[15], NC_000005.10:g.36952019TG[16], NC_000005.10:g.36952019TG[17], NC_000005.10:g.36952019TG[19], NC_000005.10:g.36952019TG[20], NC_000005.10:g.36952019TG[21], NC_000005.10:g.36952019TG[22], NC_000005.10:g.36952019TG[23], NC_000005.10:g.36952019TG[24], NC_000005.10:g.36952019TG[25], NC_000005.10:g.36952019TG[26], NC_000005.10:g.36952019TG[27], NC_000005.10:g.36952019TG[28], NC_000005.10:g.36952019TG[29], NC_000005.10:g.36952019TG[30], NC_000005.10:g.36952019TG[31], NC_000005.9:g.36952121TG[7], NC_000005.9:g.36952121TG[9], NC_000005.9:g.36952121TG[10], NC_000005.9:g.36952121TG[11], NC_000005.9:g.36952121TG[12], NC_000005.9:g.36952121TG[13], NC_000005.9:g.36952121TG[14], NC_000005.9:g.36952121TG[15], NC_000005.9:g.36952121TG[16], NC_000005.9:g.36952121TG[17], NC_000005.9:g.36952121TG[19], NC_000005.9:g.36952121TG[20], NC_000005.9:g.36952121TG[21], NC_000005.9:g.36952121TG[22], NC_000005.9:g.36952121TG[23], NC_000005.9:g.36952121TG[24], NC_000005.9:g.36952121TG[25], NC_000005.9:g.36952121TG[26], NC_000005.9:g.36952121TG[27], NC_000005.9:g.36952121TG[28], NC_000005.9:g.36952121TG[29], NC_000005.9:g.36952121TG[30], NC_000005.9:g.36952121TG[31], NG_006987.2:g.80137TG[7], NG_006987.2:g.80137TG[9], NG_006987.2:g.80137TG[10], NG_006987.2:g.80137TG[11], NG_006987.2:g.80137TG[12], NG_006987.2:g.80137TG[13], NG_006987.2:g.80137TG[14], NG_006987.2:g.80137TG[15], NG_006987.2:g.80137TG[16], NG_006987.2:g.80137TG[17], NG_006987.2:g.80137TG[19], NG_006987.2:g.80137TG[20], NG_006987.2:g.80137TG[21], NG_006987.2:g.80137TG[22], NG_006987.2:g.80137TG[23], NG_006987.2:g.80137TG[24], NG_006987.2:g.80137TG[25], NG_006987.2:g.80137TG[26], NG_006987.2:g.80137TG[27], NG_006987.2:g.80137TG[28], NG_006987.2:g.80137TG[29], NG_006987.2:g.80137TG[30], NG_006987.2:g.80137TG[31]

Select item 149134217010.

rs1491342170 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:36894363 (GRCh38)
5:36894465 (GRCh37)
Canonical SPDI:: NC_000005.10:36894361:TTT:T
Gene:: NIPBL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.36894363_36894364del, NC_000005.9:g.36894465_36894466del, NG_006987.2:g.22481_22482del

Select item 149133976811.

rs1491339768 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:36966687 (GRCh38)
5:36966789 (GRCh37)
Canonical SPDI:: NC_000005.10:36966686:AT:
Gene:: NIPBL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.36966687_36966688del, NC_000005.9:g.36966789_36966790del, NG_006987.2:g.94805_94806del

Select item 149132128212.

rs1491321282 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:36966687 (GRCh38)
5:36966790 (GRCh37)
Canonical SPDI:: NC_000005.10:36966687:TTTTTT:TTTTTTT
Gene:: NIPBL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.36966693dup, NC_000005.9:g.36966795dup, NG_006987.2:g.94811dup

Select item 149130907013.

rs1491309070 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 5:37027604 (GRCh38)
5:37027707 (GRCh37)
Canonical SPDI:: NC_000005.10:37027604:T:TGT
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.37027605_37027606insGT, NC_000005.9:g.37027707_37027708insGT, NG_006987.2:g.155723_155724insGT

Select item 149130159614.

rs1491301596 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:36946543 (GRCh38)
5:36946645 (GRCh37)
Canonical SPDI:: NC_000005.10:36946542:AG:
Gene:: NIPBL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.36946543_36946544del, NC_000005.9:g.36946645_36946646del, NG_006987.2:g.74661_74662del

Select item 149128417715.

rs1491284177 has merged into rs529922831 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCCC [Show Flanks]
Chromosome:: 5:37013052 (GRCh38)
5:37013154 (GRCh37)
Canonical SPDI:: NC_000005.10:37013044:CCCCCCCCC:CCCCCCC,NC_000005.10:37013044:CCCCCCCCC:CCCCCCCC,NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCC,NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCC,NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCCC,NC_000005.10:37013044:CCCCCCCCC:CCCCCCCCCCCCCC
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
C=0.07072/128 (Korea1K)
C=0.11866/440 (TWINSUK)
C=0.11936/460 (ALSPAC)
C=0.125/1 (KOREAN)
C=0.14077/705 (1000Genomes)
C=0.175/7 (GENOME_DK)
HGVS:: NC_000005.10:g.37013052_37013053del, NC_000005.10:g.37013053del, NC_000005.10:g.37013053dup, NC_000005.10:g.37013052_37013053dup, NC_000005.10:g.37013051_37013053dup, NC_000005.10:g.37013049_37013053dup, NC_000005.9:g.37013154_37013155del, NC_000005.9:g.37013155del, NC_000005.9:g.37013155dup, NC_000005.9:g.37013154_37013155dup, NC_000005.9:g.37013153_37013155dup, NC_000005.9:g.37013151_37013155dup, NG_006987.2:g.141170_141171del, NG_006987.2:g.141171del, NG_006987.2:g.141171dup, NG_006987.2:g.141170_141171dup, NG_006987.2:g.141169_141171dup, NG_006987.2:g.141167_141171dup

Select item 149123634616.

rs1491236346 has merged into rs1554010277 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 5:36952058 (GRCh38)
5:36952160 (GRCh37)
Canonical SPDI:: NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000005.10:36952053:GCGCGCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC
Gene:: NIPBL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: GCGC=0./0 (ALFA)
HGVS:: NC_000005.10:g.36952054GC[2], NC_000005.10:g.36952054GC[3], NC_000005.10:g.36952054GC[4], NC_000005.10:g.36952054GC[5], NC_000005.10:g.36952054GC[6], NC_000005.10:g.36952054GC[7], NC_000005.10:g.36952054GC[8], NC_000005.10:g.36952054GC[9], NC_000005.10:g.36952054GC[11], NC_000005.10:g.36952054GC[12], NC_000005.10:g.36952054GC[13], NC_000005.10:g.36952054GC[14], NC_000005.10:g.36952054GC[15], NC_000005.10:g.36952054GC[16], NC_000005.10:g.36952054GC[17], NC_000005.9:g.36952156GC[2], NC_000005.9:g.36952156GC[3], NC_000005.9:g.36952156GC[4], NC_000005.9:g.36952156GC[5], NC_000005.9:g.36952156GC[6], NC_000005.9:g.36952156GC[7], NC_000005.9:g.36952156GC[8], NC_000005.9:g.36952156GC[9], NC_000005.9:g.36952156GC[11], NC_000005.9:g.36952156GC[12], NC_000005.9:g.36952156GC[13], NC_000005.9:g.36952156GC[14], NC_000005.9:g.36952156GC[15], NC_000005.9:g.36952156GC[16], NC_000005.9:g.36952156GC[17], NG_006987.2:g.80172GC[2], NG_006987.2:g.80172GC[3], NG_006987.2:g.80172GC[4], NG_006987.2:g.80172GC[5], NG_006987.2:g.80172GC[6], NG_006987.2:g.80172GC[7], NG_006987.2:g.80172GC[8], NG_006987.2:g.80172GC[9], NG_006987.2:g.80172GC[11], NG_006987.2:g.80172GC[12], NG_006987.2:g.80172GC[13], NG_006987.2:g.80172GC[14], NG_006987.2:g.80172GC[15], NG_006987.2:g.80172GC[16], NG_006987.2:g.80172GC[17]

Select item 149123329717.

rs1491233297 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATATA [Show Flanks]
Chromosome:: 5:37033731 (GRCh38)
5:37033834 (GRCh37)
Canonical SPDI:: NC_000005.10:37033731::A,NC_000005.10:37033731::ATA,NC_000005.10:37033731::ATATA,NC_000005.10:37033731::ATATATA,NC_000005.10:37033731::ATATATATA,NC_000005.10:37033731::ATATATATATA,NC_000005.10:37033731::ATATATATATATA,NC_000005.10:37033731::ATATATATATATATATA
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.003/5 (Korea1K)
HGVS:: NC_000005.10:g.37033731_37033732insA, NC_000005.10:g.37033731_37033732insATA, NC_000005.10:g.37033731_37033732insATATA, NC_000005.10:g.37033731_37033732insATATATA, NC_000005.10:g.37033731_37033732insATATATATA, NC_000005.10:g.37033731_37033732insATATATATATA, NC_000005.10:g.37033731_37033732insATATATATATATA, NC_000005.10:g.37033731_37033732insATATATATATATATATA, NC_000005.9:g.37033833_37033834insA, NC_000005.9:g.37033833_37033834insATA, NC_000005.9:g.37033833_37033834insATATA, NC_000005.9:g.37033833_37033834insATATATA, NC_000005.9:g.37033833_37033834insATATATATA, NC_000005.9:g.37033833_37033834insATATATATATA, NC_000005.9:g.37033833_37033834insATATATATATATA, NC_000005.9:g.37033833_37033834insATATATATATATATATA, NG_006987.2:g.161849_161850insA, NG_006987.2:g.161849_161850insATA, NG_006987.2:g.161849_161850insATATA, NG_006987.2:g.161849_161850insATATATA, NG_006987.2:g.161849_161850insATATATATA, NG_006987.2:g.161849_161850insATATATATATA, NG_006987.2:g.161849_161850insATATATATATATA, NG_006987.2:g.161849_161850insATATATATATATATATA

Select item 149122446618.

rs1491224466 has merged into rs781358128 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:37027617 (GRCh38)
5:37027719 (GRCh37)
Canonical SPDI:: NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37027603:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NIPBL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.37027617_37027628del, NC_000005.10:g.37027618_37027628del, NC_000005.10:g.37027621_37027628del, NC_000005.10:g.37027622_37027628del, NC_000005.10:g.37027624_37027628del, NC_000005.10:g.37027626_37027628del, NC_000005.10:g.37027627_37027628del, NC_000005.10:g.37027628del, NC_000005.10:g.37027628dup, NC_000005.10:g.37027627_37027628dup, NC_000005.10:g.37027626_37027628dup, NC_000005.10:g.37027625_37027628dup, NC_000005.10:g.37027624_37027628dup, NC_000005.10:g.37027623_37027628dup, NC_000005.10:g.37027622_37027628dup, NC_000005.10:g.37027621_37027628dup, NC_000005.10:g.37027620_37027628dup, NC_000005.10:g.37027619_37027628dup, NC_000005.10:g.37027618_37027628dup, NC_000005.10:g.37027616_37027628dup, NC_000005.10:g.37027615_37027628dup, NC_000005.10:g.37027613_37027628dup, NC_000005.9:g.37027719_37027730del, NC_000005.9:g.37027720_37027730del, NC_000005.9:g.37027723_37027730del, NC_000005.9:g.37027724_37027730del, NC_000005.9:g.37027726_37027730del, NC_000005.9:g.37027728_37027730del, NC_000005.9:g.37027729_37027730del, NC_000005.9:g.37027730del, NC_000005.9:g.37027730dup, NC_000005.9:g.37027729_37027730dup, NC_000005.9:g.37027728_37027730dup, NC_000005.9:g.37027727_37027730dup, NC_000005.9:g.37027726_37027730dup, NC_000005.9:g.37027725_37027730dup, NC_000005.9:g.37027724_37027730dup, NC_000005.9:g.37027723_37027730dup, NC_000005.9:g.37027722_37027730dup, NC_000005.9:g.37027721_37027730dup, NC_000005.9:g.37027720_37027730dup, NC_000005.9:g.37027718_37027730dup, NC_000005.9:g.37027717_37027730dup, NC_000005.9:g.37027715_37027730dup, NG_006987.2:g.155735_155746del, NG_006987.2:g.155736_155746del, NG_006987.2:g.155739_155746del, NG_006987.2:g.155740_155746del, NG_006987.2:g.155742_155746del, NG_006987.2:g.155744_155746del, NG_006987.2:g.155745_155746del, NG_006987.2:g.155746del, NG_006987.2:g.155746dup, NG_006987.2:g.155745_155746dup, NG_006987.2:g.155744_155746dup, NG_006987.2:g.155743_155746dup, NG_006987.2:g.155742_155746dup, NG_006987.2:g.155741_155746dup, NG_006987.2:g.155740_155746dup, NG_006987.2:g.155739_155746dup, NG_006987.2:g.155738_155746dup, NG_006987.2:g.155737_155746dup, NG_006987.2:g.155736_155746dup, NG_006987.2:g.155734_155746dup, NG_006987.2:g.155733_155746dup, NG_006987.2:g.155731_155746dup

Select item 149121851919.

rs1491218519 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:36908428 (GRCh38)
5:36908530 (GRCh37)
Canonical SPDI:: NC_000005.10:36908426:AAA:A
Gene:: NIPBL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.36908428_36908429del, NC_000005.9:g.36908530_36908531del, NG_006987.2:g.36546_36547del

Select item 149121025420.

rs1491210254 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:36965768 (GRCh38)
5:36965870 (GRCh37)
Canonical SPDI:: NC_000005.10:36965767:AT:
Gene:: NIPBL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36965768_36965769del, NC_000005.9:g.36965870_36965871del, NG_006987.2:g.93886_93887del

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