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Select item 14915743761.

rs1491574376 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:21499079 (GRCh38)
7:21538697 (GRCh37)
Canonical SPDI:: NC_000007.14:21499078:CA:
Gene:: SP4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01113/132 (ALFA)
-=0.00336/95 (TOMMO)
HGVS:: NC_000007.14:g.21499079_21499080del, NC_000007.13:g.21538697_21538698del, NG_050737.1:g.76046_76047del

Select item 14915444792.

rs1491544479 has merged into rs11300598 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 7:21442048 (GRCh38)
7:21481666 (GRCh37)
Canonical SPDI:: NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:21442038:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: SP4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.1853/714 (ALSPAC)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000007.14:g.21442048_21442056del, NC_000007.14:g.21442049_21442056del, NC_000007.14:g.21442050_21442056del, NC_000007.14:g.21442051_21442056del, NC_000007.14:g.21442053_21442056del, NC_000007.14:g.21442054_21442056del, NC_000007.14:g.21442055_21442056del, NC_000007.14:g.21442056del, NC_000007.14:g.21442056dup, NC_000007.14:g.21442055_21442056dup, NC_000007.13:g.21481666_21481674del, NC_000007.13:g.21481667_21481674del, NC_000007.13:g.21481668_21481674del, NC_000007.13:g.21481669_21481674del, NC_000007.13:g.21481671_21481674del, NC_000007.13:g.21481672_21481674del, NC_000007.13:g.21481673_21481674del, NC_000007.13:g.21481674del, NC_000007.13:g.21481674dup, NC_000007.13:g.21481673_21481674dup, NG_050737.1:g.19015_19023del, NG_050737.1:g.19016_19023del, NG_050737.1:g.19017_19023del, NG_050737.1:g.19018_19023del, NG_050737.1:g.19020_19023del, NG_050737.1:g.19021_19023del, NG_050737.1:g.19022_19023del, NG_050737.1:g.19023del, NG_050737.1:g.19023dup, NG_050737.1:g.19022_19023dup

Select item 14915282443.

rs1491528244 has merged into rs1193080485 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:21489563 (GRCh38)
7:21529181 (GRCh37)
Canonical SPDI:: NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21489553:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.21489563_21489577del, NC_000007.14:g.21489565_21489577del, NC_000007.14:g.21489566_21489577del, NC_000007.14:g.21489568_21489577del, NC_000007.14:g.21489570_21489577del, NC_000007.14:g.21489571_21489577del, NC_000007.14:g.21489572_21489577del, NC_000007.14:g.21489575_21489577del, NC_000007.14:g.21489576_21489577del, NC_000007.14:g.21489577del, NC_000007.14:g.21489577dup, NC_000007.14:g.21489576_21489577dup, NC_000007.14:g.21489575_21489577dup, NC_000007.14:g.21489574_21489577dup, NC_000007.14:g.21489573_21489577dup, NC_000007.14:g.21489572_21489577dup, NC_000007.14:g.21489571_21489577dup, NC_000007.14:g.21489570_21489577dup, NC_000007.14:g.21489569_21489577dup, NC_000007.14:g.21489568_21489577dup, NC_000007.14:g.21489566_21489577dup, NC_000007.14:g.21489565_21489577dup, NC_000007.14:g.21489564_21489577dup, NC_000007.14:g.21489563_21489577dup, NC_000007.14:g.21489562_21489577dup, NC_000007.14:g.21489561_21489577dup, NC_000007.14:g.21489560_21489577dup, NC_000007.14:g.21489558_21489577dup, NC_000007.14:g.21489557_21489577dup, NC_000007.13:g.21529181_21529195del, NC_000007.13:g.21529183_21529195del, NC_000007.13:g.21529184_21529195del, NC_000007.13:g.21529186_21529195del, NC_000007.13:g.21529188_21529195del, NC_000007.13:g.21529189_21529195del, NC_000007.13:g.21529190_21529195del, NC_000007.13:g.21529193_21529195del, NC_000007.13:g.21529194_21529195del, NC_000007.13:g.21529195del, NC_000007.13:g.21529195dup, NC_000007.13:g.21529194_21529195dup, NC_000007.13:g.21529193_21529195dup, NC_000007.13:g.21529192_21529195dup, NC_000007.13:g.21529191_21529195dup, NC_000007.13:g.21529190_21529195dup, NC_000007.13:g.21529189_21529195dup, NC_000007.13:g.21529188_21529195dup, NC_000007.13:g.21529187_21529195dup, NC_000007.13:g.21529186_21529195dup, NC_000007.13:g.21529184_21529195dup, NC_000007.13:g.21529183_21529195dup, NC_000007.13:g.21529182_21529195dup, NC_000007.13:g.21529181_21529195dup, NC_000007.13:g.21529180_21529195dup, NC_000007.13:g.21529179_21529195dup, NC_000007.13:g.21529178_21529195dup, NC_000007.13:g.21529176_21529195dup, NC_000007.13:g.21529175_21529195dup, NG_050737.1:g.66530_66544del, NG_050737.1:g.66532_66544del, NG_050737.1:g.66533_66544del, NG_050737.1:g.66535_66544del, NG_050737.1:g.66537_66544del, NG_050737.1:g.66538_66544del, NG_050737.1:g.66539_66544del, NG_050737.1:g.66542_66544del, NG_050737.1:g.66543_66544del, NG_050737.1:g.66544del, NG_050737.1:g.66544dup, NG_050737.1:g.66543_66544dup, NG_050737.1:g.66542_66544dup, NG_050737.1:g.66541_66544dup, NG_050737.1:g.66540_66544dup, NG_050737.1:g.66539_66544dup, NG_050737.1:g.66538_66544dup, NG_050737.1:g.66537_66544dup, NG_050737.1:g.66536_66544dup, NG_050737.1:g.66535_66544dup, NG_050737.1:g.66533_66544dup, NG_050737.1:g.66532_66544dup, NG_050737.1:g.66531_66544dup, NG_050737.1:g.66530_66544dup, NG_050737.1:g.66529_66544dup, NG_050737.1:g.66528_66544dup, NG_050737.1:g.66527_66544dup, NG_050737.1:g.66525_66544dup, NG_050737.1:g.66524_66544dup, XM_005249829.5:c.*6939_*6953del, XM_005249829.5:c.*6941_*6953del, XM_005249829.5:c.*6942_*6953del, XM_005249829.5:c.*6944_*6953del, XM_005249829.5:c.*6946_*6953del, XM_005249829.5:c.*6947_*6953del, XM_005249829.5:c.*6948_*6953del, XM_005249829.5:c.*6951_*6953del, XM_005249829.5:c.*6952_*6953del, XM_005249829.5:c.*6953del, XM_005249829.5:c.*6953dup, XM_005249829.5:c.*6952_*6953dup, XM_005249829.5:c.*6951_*6953dup, XM_005249829.5:c.*6950_*6953dup, XM_005249829.5:c.*6949_*6953dup, XM_005249829.5:c.*6948_*6953dup, XM_005249829.5:c.*6947_*6953dup, XM_005249829.5:c.*6946_*6953dup, XM_005249829.5:c.*6945_*6953dup, XM_005249829.5:c.*6944_*6953dup, XM_005249829.5:c.*6942_*6953dup, XM_005249829.5:c.*6941_*6953dup, XM_005249829.5:c.*6940_*6953dup, XM_005249829.5:c.*6939_*6953dup, XM_005249829.5:c.*6938_*6953dup, XM_005249829.5:c.*6937_*6953dup, XM_005249829.5:c.*6936_*6953dup, XM_005249829.5:c.*6934_*6953dup, XM_005249829.5:c.*6933_*6953dup

Select item 14915162784.

rs1491516278 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:21514530 (GRCh38)
7:21554148 (GRCh37)
Canonical SPDI:: NC_000007.14:21514528:TGT:T
Gene:: SP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00322/53 (TOMMO)
-=0.00395/7 (Korea1K)
-=0.025/1 (GENOME_DK)
-=0.02964/15 (NorthernSweden)
-=0.11058/7983 (GnomAD)
HGVS:: NC_000007.14:g.21514530_21514531del, NC_000007.13:g.21554148_21554149del, NG_050737.1:g.91497_91498del, NM_003112.5:c.*3261_*3262del, NM_003112.4:c.*3261_*3262del, NM_003112.3:c.*3261_*3262del, NM_001326542.2:c.*3261_*3262del, NM_001326542.1:c.*3261_*3262del, NM_001326543.2:c.*3261_*3262del, NM_001326543.1:c.*3261_*3262del

Select item 14915045805.

rs1491504580 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,GC,TC [Show Flanks]
Chromosome:: 7:21502041 (GRCh38)
7:21541660 (GRCh37)
Canonical SPDI:: NC_000007.14:21502041:C:CAC,NC_000007.14:21502041:C:CGC,NC_000007.14:21502041:C:CTC
Gene:: SP4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CA=0.03498/17 (NorthernSweden)
HGVS:: NC_000007.14:g.21502042_21502043insAC, NC_000007.14:g.21502042_21502043insGC, NC_000007.14:g.21502042_21502043insTC, NC_000007.13:g.21541660_21541661insAC, NC_000007.13:g.21541660_21541661insGC, NC_000007.13:g.21541660_21541661insTC, NG_050737.1:g.79009_79010insAC, NG_050737.1:g.79009_79010insGC, NG_050737.1:g.79009_79010insTC

Select item 14914824156.

rs1491482415 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:21425312 (GRCh38)
7:21464931 (GRCh37)
Canonical SPDI:: NC_000007.14:21425312:C:CC
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000013/1 (GnomAD)
HGVS:: NC_000007.14:g.21425313dup, NC_000007.13:g.21464931dup, NG_050737.1:g.2280dup

Select item 14914712857.

rs1491471285 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:21470769 (GRCh38)
7:21510387 (GRCh37)
Canonical SPDI:: NC_000007.14:21470768:AG:
Gene:: SP4 (Varview), MIR1183 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000212/29 (GnomAD)
-=0.002183/4 (Korea1K)
HGVS:: NC_000007.14:g.21470769_21470770del, NC_000007.13:g.21510387_21510388del, NG_050737.1:g.47736_47737del

Select item 14914638968.

rs1491463896 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:21429251 (GRCh38)
7:21468869 (GRCh37)
Canonical SPDI:: NC_000007.14:21429250:TC:
Gene:: SP4 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0011/13 (ALFA)
-=0.00042/5 (TOMMO)
-=0.00104/76 (GnomAD)
-=0.00148/2 (Korea1K)
-=0.00251/95 (ExAC)
-=0.00735/4 (NorthernSweden)
C=0.01659/83 (1000Genomes)
HGVS:: NC_000007.14:g.21429251_21429252del, NC_000007.13:g.21468869_21468870del, NG_050737.1:g.6218_6219del

Select item 14913964739.

rs1491396473 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTT [Show Flanks]
Chromosome:: 7:21489554 (GRCh38)
7:21529173 (GRCh37)
Canonical SPDI:: NC_000007.14:21489554:TTTTT:TTTTTCTTTTT
Gene:: SP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTCTTTTT=0.00481/57 (ALFA)
HGVS:: NC_000007.14:g.21489555_21489559T[5]CTTTTT[1], NC_000007.13:g.21529173_21529177T[5]CTTTTT[1], NG_050737.1:g.66522_66526T[5]CTTTTT[1], XM_005249829.5:c.*6931_*6935T[5]CTTTTT[1]

Select item 149138343510.

rs1491383435 has merged into rs773196151 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:21462039 (GRCh38)
7:21501657 (GRCh37)
Canonical SPDI:: NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21462027:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SP4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.21462039_21462045del, NC_000007.14:g.21462040_21462045del, NC_000007.14:g.21462042_21462045del, NC_000007.14:g.21462043_21462045del, NC_000007.14:g.21462044_21462045del, NC_000007.14:g.21462045del, NC_000007.14:g.21462045dup, NC_000007.14:g.21462044_21462045dup, NC_000007.14:g.21462043_21462045dup, NC_000007.14:g.21462042_21462045dup, NC_000007.14:g.21462040_21462045dup, NC_000007.14:g.21462039_21462045dup, NC_000007.13:g.21501657_21501663del, NC_000007.13:g.21501658_21501663del, NC_000007.13:g.21501660_21501663del, NC_000007.13:g.21501661_21501663del, NC_000007.13:g.21501662_21501663del, NC_000007.13:g.21501663del, NC_000007.13:g.21501663dup, NC_000007.13:g.21501662_21501663dup, NC_000007.13:g.21501661_21501663dup, NC_000007.13:g.21501660_21501663dup, NC_000007.13:g.21501658_21501663dup, NC_000007.13:g.21501657_21501663dup, NG_050737.1:g.39006_39012del, NG_050737.1:g.39007_39012del, NG_050737.1:g.39009_39012del, NG_050737.1:g.39010_39012del, NG_050737.1:g.39011_39012del, NG_050737.1:g.39012del, NG_050737.1:g.39012dup, NG_050737.1:g.39011_39012dup, NG_050737.1:g.39010_39012dup, NG_050737.1:g.39009_39012dup, NG_050737.1:g.39007_39012dup, NG_050737.1:g.39006_39012dup

Select item 149131811011.

rs1491318110 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCACG,TGCG,TGTGCG [Show Flanks]
Chromosome:: 7:21446029 (GRCh38)
7:21485648 (GRCh37)
Canonical SPDI:: NC_000007.14:21446029:G:GTGCACG,NC_000007.14:21446029:G:GTGCG,NC_000007.14:21446029:G:GTGTGCG
Gene:: SP4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTGCG=0./0 (ALFA)
GTGC=0.000046/6 (GnomAD)
HGVS:: NC_000007.14:g.21446030_21446031insTGCACG, NC_000007.14:g.21446030_21446031insTGCG, NC_000007.14:g.21446030GT[2]GCG[1], NC_000007.13:g.21485648_21485649insTGCACG, NC_000007.13:g.21485648_21485649insTGCG, NC_000007.13:g.21485648GT[2]GCG[1], NG_050737.1:g.22997_22998insTGCACG, NG_050737.1:g.22997_22998insTGCG, NG_050737.1:g.22997GT[2]GCG[1]

Select item 149131620312.

rs1491316203 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:21464123 (GRCh38)
7:21503742 (GRCh37)
Canonical SPDI:: NC_000007.14:21464123::C
Gene:: SP4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.21464123_21464124insC, NC_000007.13:g.21503741_21503742insC, NG_050737.1:g.41090_41091insC

Select item 149131407313.

rs1491314073 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:21495801 (GRCh38)
7:21535419 (GRCh37)
Canonical SPDI:: NC_000007.14:21495800:AT:
Gene:: SP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.21495801_21495802del, NC_000007.13:g.21535419_21535420del, NG_050737.1:g.72768_72769del, XM_005249829.5:c.*13177_*13178del

Select item 149131402914.

rs1491314029 has merged into rs71023502 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:21425326 (GRCh38)
7:21464944 (GRCh37)
Canonical SPDI:: NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21425317:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.21425326_21425337del, NC_000007.14:g.21425327_21425337del, NC_000007.14:g.21425328_21425337del, NC_000007.14:g.21425330_21425337del, NC_000007.14:g.21425331_21425337del, NC_000007.14:g.21425332_21425337del, NC_000007.14:g.21425333_21425337del, NC_000007.14:g.21425334_21425337del, NC_000007.14:g.21425335_21425337del, NC_000007.14:g.21425336_21425337del, NC_000007.14:g.21425337del, NC_000007.14:g.21425337dup, NC_000007.14:g.21425336_21425337dup, NC_000007.14:g.21425335_21425337dup, NC_000007.14:g.21425334_21425337dup, NC_000007.14:g.21425333_21425337dup, NC_000007.14:g.21425332_21425337dup, NC_000007.14:g.21425331_21425337dup, NC_000007.14:g.21425330_21425337dup, NC_000007.14:g.21425329_21425337dup, NC_000007.14:g.21425328_21425337dup, NC_000007.14:g.21425327_21425337dup, NC_000007.14:g.21425326_21425337dup, NC_000007.14:g.21425325_21425337dup, NC_000007.14:g.21425324_21425337dup, NC_000007.14:g.21425323_21425337dup, NC_000007.14:g.21425322_21425337dup, NC_000007.14:g.21425321_21425337dup, NC_000007.14:g.21425320_21425337dup, NC_000007.14:g.21425319_21425337dup, NC_000007.14:g.21425318_21425337dup, NC_000007.14:g.21425337_21425338insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.21464944_21464955del, NC_000007.13:g.21464945_21464955del, NC_000007.13:g.21464946_21464955del, NC_000007.13:g.21464948_21464955del, NC_000007.13:g.21464949_21464955del, NC_000007.13:g.21464950_21464955del, NC_000007.13:g.21464951_21464955del, NC_000007.13:g.21464952_21464955del, NC_000007.13:g.21464953_21464955del, NC_000007.13:g.21464954_21464955del, NC_000007.13:g.21464955del, NC_000007.13:g.21464955dup, NC_000007.13:g.21464954_21464955dup, NC_000007.13:g.21464953_21464955dup, NC_000007.13:g.21464952_21464955dup, NC_000007.13:g.21464951_21464955dup, NC_000007.13:g.21464950_21464955dup, NC_000007.13:g.21464949_21464955dup, NC_000007.13:g.21464948_21464955dup, NC_000007.13:g.21464947_21464955dup, NC_000007.13:g.21464946_21464955dup, NC_000007.13:g.21464945_21464955dup, NC_000007.13:g.21464944_21464955dup, NC_000007.13:g.21464943_21464955dup, NC_000007.13:g.21464942_21464955dup, NC_000007.13:g.21464941_21464955dup, NC_000007.13:g.21464940_21464955dup, NC_000007.13:g.21464939_21464955dup, NC_000007.13:g.21464938_21464955dup, NC_000007.13:g.21464937_21464955dup, NC_000007.13:g.21464936_21464955dup, NC_000007.13:g.21464955_21464956insTTTTTTTTTTTTTTTTTTTTT, NG_050737.1:g.2293_2304del, NG_050737.1:g.2294_2304del, NG_050737.1:g.2295_2304del, NG_050737.1:g.2297_2304del, NG_050737.1:g.2298_2304del, NG_050737.1:g.2299_2304del, NG_050737.1:g.2300_2304del, NG_050737.1:g.2301_2304del, NG_050737.1:g.2302_2304del, NG_050737.1:g.2303_2304del, NG_050737.1:g.2304del, NG_050737.1:g.2304dup, NG_050737.1:g.2303_2304dup, NG_050737.1:g.2302_2304dup, NG_050737.1:g.2301_2304dup, NG_050737.1:g.2300_2304dup, NG_050737.1:g.2299_2304dup, NG_050737.1:g.2298_2304dup, NG_050737.1:g.2297_2304dup, NG_050737.1:g.2296_2304dup, NG_050737.1:g.2295_2304dup, NG_050737.1:g.2294_2304dup, NG_050737.1:g.2293_2304dup, NG_050737.1:g.2292_2304dup, NG_050737.1:g.2291_2304dup, NG_050737.1:g.2290_2304dup, NG_050737.1:g.2289_2304dup, NG_050737.1:g.2288_2304dup, NG_050737.1:g.2287_2304dup, NG_050737.1:g.2286_2304dup, NG_050737.1:g.2285_2304dup, NG_050737.1:g.2304_2305insTTTTTTTTTTTTTTTTTTTTT

Select item 149130424315.

rs1491304243 has merged into rs995083942 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:21464132 (GRCh38)
7:21503750 (GRCh37)
Canonical SPDI:: NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:21464122:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SP4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.21464132_21464142del, NC_000007.14:g.21464133_21464142del, NC_000007.14:g.21464136_21464142del, NC_000007.14:g.21464138_21464142del, NC_000007.14:g.21464140_21464142del, NC_000007.14:g.21464141_21464142del, NC_000007.14:g.21464142del, NC_000007.14:g.21464142dup, NC_000007.14:g.21464141_21464142dup, NC_000007.14:g.21464140_21464142dup, NC_000007.14:g.21464139_21464142dup, NC_000007.14:g.21464138_21464142dup, NC_000007.14:g.21464137_21464142dup, NC_000007.14:g.21464136_21464142dup, NC_000007.14:g.21464142_21464143insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.21503750_21503760del, NC_000007.13:g.21503751_21503760del, NC_000007.13:g.21503754_21503760del, NC_000007.13:g.21503756_21503760del, NC_000007.13:g.21503758_21503760del, NC_000007.13:g.21503759_21503760del, NC_000007.13:g.21503760del, NC_000007.13:g.21503760dup, NC_000007.13:g.21503759_21503760dup, NC_000007.13:g.21503758_21503760dup, NC_000007.13:g.21503757_21503760dup, NC_000007.13:g.21503756_21503760dup, NC_000007.13:g.21503755_21503760dup, NC_000007.13:g.21503754_21503760dup, NC_000007.13:g.21503760_21503761insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050737.1:g.41099_41109del, NG_050737.1:g.41100_41109del, NG_050737.1:g.41103_41109del, NG_050737.1:g.41105_41109del, NG_050737.1:g.41107_41109del, NG_050737.1:g.41108_41109del, NG_050737.1:g.41109del, NG_050737.1:g.41109dup, NG_050737.1:g.41108_41109dup, NG_050737.1:g.41107_41109dup, NG_050737.1:g.41106_41109dup, NG_050737.1:g.41105_41109dup, NG_050737.1:g.41104_41109dup, NG_050737.1:g.41103_41109dup, NG_050737.1:g.41109_41110insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149127790516.

rs1491277905 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:21425313 (GRCh38)
7:21464931 (GRCh37)
Canonical SPDI:: NC_000007.14:21425311:TCT:T
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
-=0.00004/3 (GnomAD)
HGVS:: NC_000007.14:g.21425313_21425314del, NC_000007.13:g.21464931_21464932del, NG_050737.1:g.2280_2281del

Select item 149126907617.

rs1491269076 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:21442005 (GRCh38)
7:21481624 (GRCh37)
Canonical SPDI:: NC_000007.14:21442005::G
Gene:: SP4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00284/233 (GnomAD)
HGVS:: NC_000007.14:g.21442005_21442006insG, NC_000007.13:g.21481623_21481624insG, NG_050737.1:g.18972_18973insG

Select item 149121734018.

rs1491217340 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:21502040 (GRCh38)
7:21541658 (GRCh37)
Canonical SPDI:: NC_000007.14:21502038:CAC:C
Gene:: SP4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.00254/4 (Korea1K)
HGVS:: NC_000007.14:g.21502040_21502041del, NC_000007.13:g.21541658_21541659del, NG_050737.1:g.79007_79008del

Select item 149120263019.

rs1491202630 has merged into rs755811425 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:21502039 (GRCh38)
7:21541658 (GRCh37)
Canonical SPDI:: NC_000007.14:21502039:A:AA
Gene:: SP4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00006/4 (GnomAD)
A=0.00701/27 (ALSPAC)
A=0.01079/40 (TWINSUK)
HGVS:: NC_000007.14:g.21502040dup, NC_000007.13:g.21541658dup, NG_050737.1:g.79007dup

Select item 149119564220.

rs1491195642 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:21481644 (GRCh38)
7:21521263 (GRCh37)
Canonical SPDI:: NC_000007.14:21481644:TTTTTTT:TTTTTTTT
Gene:: SP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.21481651dup, NC_000007.13:g.21521269dup, NG_050737.1:g.58618dup, XM_017012557.2:c.*71dup, XM_017012557.1:c.*71dup

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