SNP Links for Nucleotide (Select 166706892) - SNP

Links from Nucleotide

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Select item 14915388611.

rs1491538861 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:42319541 (GRCh38)
17:40471559 (GRCh37)
Canonical SPDI:: NC_000017.11:42319540:CA:
Gene:: STAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00075/12 (TOMMO)
HGVS:: NC_000017.11:g.42319541_42319542del, NC_000017.10:g.40471559_40471560del, NG_007370.1:g.73954_73955del

Select item 14915271702.

rs1491527170 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14914518943.

rs1491451894 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:42366670 (GRCh38)
17:40518688 (GRCh37)
Canonical SPDI:: NC_000017.11:42366669:CA:
Gene:: STAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00303/36 (ALFA)
-=0.00361/99 (TOMMO)
HGVS:: NC_000017.11:g.42366670_42366671del, NC_000017.10:g.40518688_40518689del, NG_007370.1:g.26825_26826del

Select item 14914126184.

rs1491412618 has merged into rs971943600 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:42321124 (GRCh38)
17:40473142 (GRCh37)
Canonical SPDI:: NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42321114:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.42321124_42321134del, NC_000017.11:g.42321125_42321134del, NC_000017.11:g.42321126_42321134del, NC_000017.11:g.42321128_42321134del, NC_000017.11:g.42321129_42321134del, NC_000017.11:g.42321130_42321134del, NC_000017.11:g.42321131_42321134del, NC_000017.11:g.42321132_42321134del, NC_000017.11:g.42321133_42321134del, NC_000017.11:g.42321134del, NC_000017.11:g.42321134dup, NC_000017.11:g.42321133_42321134dup, NC_000017.11:g.42321132_42321134dup, NC_000017.11:g.42321131_42321134dup, NC_000017.11:g.42321130_42321134dup, NC_000017.11:g.42321129_42321134dup, NC_000017.11:g.42321128_42321134dup, NC_000017.10:g.40473142_40473152del, NC_000017.10:g.40473143_40473152del, NC_000017.10:g.40473144_40473152del, NC_000017.10:g.40473146_40473152del, NC_000017.10:g.40473147_40473152del, NC_000017.10:g.40473148_40473152del, NC_000017.10:g.40473149_40473152del, NC_000017.10:g.40473150_40473152del, NC_000017.10:g.40473151_40473152del, NC_000017.10:g.40473152del, NC_000017.10:g.40473152dup, NC_000017.10:g.40473151_40473152dup, NC_000017.10:g.40473150_40473152dup, NC_000017.10:g.40473149_40473152dup, NC_000017.10:g.40473148_40473152dup, NC_000017.10:g.40473147_40473152dup, NC_000017.10:g.40473146_40473152dup, NG_007370.1:g.72371_72381del, NG_007370.1:g.72372_72381del, NG_007370.1:g.72373_72381del, NG_007370.1:g.72375_72381del, NG_007370.1:g.72376_72381del, NG_007370.1:g.72377_72381del, NG_007370.1:g.72378_72381del, NG_007370.1:g.72379_72381del, NG_007370.1:g.72380_72381del, NG_007370.1:g.72381del, NG_007370.1:g.72381dup, NG_007370.1:g.72380_72381dup, NG_007370.1:g.72379_72381dup, NG_007370.1:g.72378_72381dup, NG_007370.1:g.72377_72381dup, NG_007370.1:g.72376_72381dup, NG_007370.1:g.72375_72381dup

Select item 14914072535.

rs1491407253 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 17:42366693 (GRCh38)
17:40518712 (GRCh37)
Canonical SPDI:: NC_000017.11:42366693:A:AATA
Gene:: STAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AATA=0./0 (ALFA)
AAT=0.000147/19 (GnomAD)
HGVS:: NC_000017.11:g.42366694_42366695insATA, NC_000017.10:g.40518712_40518713insATA, NG_007370.1:g.26802_26803insATT

Select item 14913986716.

rs1491398671 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:42340521 (GRCh38)
17:40492539 (GRCh37)
Canonical SPDI:: NC_000017.11:42340520:AT:
Gene:: STAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42340521_42340522del, NC_000017.10:g.40492539_40492540del, NG_007370.1:g.52974_52975del

Select item 14913850677.

rs1491385067 has merged into rs534318283 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:42391330 (GRCh38)
17:40543348 (GRCh37)
Canonical SPDI:: NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42391315:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.0827/414 (1000Genomes)
HGVS:: NC_000017.11:g.42391330_42391338del, NC_000017.11:g.42391331_42391338del, NC_000017.11:g.42391332_42391338del, NC_000017.11:g.42391333_42391338del, NC_000017.11:g.42391334_42391338del, NC_000017.11:g.42391335_42391338del, NC_000017.11:g.42391336_42391338del, NC_000017.11:g.42391337_42391338del, NC_000017.11:g.42391338del, NC_000017.11:g.42391338dup, NC_000017.11:g.42391337_42391338dup, NC_000017.11:g.42391333_42391338dup, NC_000017.10:g.40543348_40543356del, NC_000017.10:g.40543349_40543356del, NC_000017.10:g.40543350_40543356del, NC_000017.10:g.40543351_40543356del, NC_000017.10:g.40543352_40543356del, NC_000017.10:g.40543353_40543356del, NC_000017.10:g.40543354_40543356del, NC_000017.10:g.40543355_40543356del, NC_000017.10:g.40543356del, NC_000017.10:g.40543356dup, NC_000017.10:g.40543355_40543356dup, NC_000017.10:g.40543351_40543356dup, NG_007370.1:g.2172_2180del, NG_007370.1:g.2173_2180del, NG_007370.1:g.2174_2180del, NG_007370.1:g.2175_2180del, NG_007370.1:g.2176_2180del, NG_007370.1:g.2177_2180del, NG_007370.1:g.2178_2180del, NG_007370.1:g.2179_2180del, NG_007370.1:g.2180del, NG_007370.1:g.2180dup, NG_007370.1:g.2179_2180dup, NG_007370.1:g.2175_2180dup

Select item 14913599468.

rs1491359946 has merged into rs1311140948 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 17:42330120 (GRCh38)
17:40482138 (GRCh37)
Canonical SPDI:: NC_000017.11:42330115:TTTTTT:TTTT,NC_000017.11:42330115:TTTTTT:TTTTT
Gene:: STAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.42330120_42330121del, NC_000017.11:g.42330121del, NC_000017.10:g.40482138_40482139del, NC_000017.10:g.40482139del, NG_007370.1:g.63379_63380del, NG_007370.1:g.63380del

Select item 14913512309.

rs1491351230 has merged into rs11328125 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:42385519 (GRCh38)
17:40537537 (GRCh37)
Canonical SPDI:: NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42385508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: STAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0973/375 (ALSPAC)
A=0.425/17 (GENOME_DK)
A=0.4772/2390 (1000Genomes)
HGVS:: NC_000017.11:g.42385519_42385526del, NC_000017.11:g.42385521_42385526del, NC_000017.11:g.42385523_42385526del, NC_000017.11:g.42385524_42385526del, NC_000017.11:g.42385525_42385526del, NC_000017.11:g.42385526del, NC_000017.11:g.42385526dup, NC_000017.11:g.42385525_42385526dup, NC_000017.11:g.42385524_42385526dup, NC_000017.11:g.42385523_42385526dup, NC_000017.11:g.42385522_42385526dup, NC_000017.10:g.40537537_40537544del, NC_000017.10:g.40537539_40537544del, NC_000017.10:g.40537541_40537544del, NC_000017.10:g.40537542_40537544del, NC_000017.10:g.40537543_40537544del, NC_000017.10:g.40537544del, NC_000017.10:g.40537544dup, NC_000017.10:g.40537543_40537544dup, NC_000017.10:g.40537542_40537544dup, NC_000017.10:g.40537541_40537544dup, NC_000017.10:g.40537540_40537544dup, NG_007370.1:g.7980_7987del, NG_007370.1:g.7982_7987del, NG_007370.1:g.7984_7987del, NG_007370.1:g.7985_7987del, NG_007370.1:g.7986_7987del, NG_007370.1:g.7987del, NG_007370.1:g.7987dup, NG_007370.1:g.7986_7987dup, NG_007370.1:g.7985_7987dup, NG_007370.1:g.7984_7987dup, NG_007370.1:g.7983_7987dup

Select item 149134798810.

rs1491347988 has merged into rs34003618 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:42366680 (GRCh38)
17:40518698 (GRCh37)
Canonical SPDI:: NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42366670:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: STAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.35/14 (GENOME_DK)
HGVS:: NC_000017.11:g.42366680_42366694del, NC_000017.11:g.42366681_42366694del, NC_000017.11:g.42366682_42366694del, NC_000017.11:g.42366683_42366694del, NC_000017.11:g.42366684_42366694del, NC_000017.11:g.42366685_42366694del, NC_000017.11:g.42366686_42366694del, NC_000017.11:g.42366687_42366694del, NC_000017.11:g.42366689_42366694del, NC_000017.11:g.42366690_42366694del, NC_000017.11:g.42366691_42366694del, NC_000017.11:g.42366692_42366694del, NC_000017.11:g.42366693_42366694del, NC_000017.11:g.42366694del, NC_000017.11:g.42366694dup, NC_000017.11:g.42366693_42366694dup, NC_000017.11:g.42366692_42366694dup, NC_000017.11:g.42366690_42366694dup, NC_000017.10:g.40518698_40518712del, NC_000017.10:g.40518699_40518712del, NC_000017.10:g.40518700_40518712del, NC_000017.10:g.40518701_40518712del, NC_000017.10:g.40518702_40518712del, NC_000017.10:g.40518703_40518712del, NC_000017.10:g.40518704_40518712del, NC_000017.10:g.40518705_40518712del, NC_000017.10:g.40518707_40518712del, NC_000017.10:g.40518708_40518712del, NC_000017.10:g.40518709_40518712del, NC_000017.10:g.40518710_40518712del, NC_000017.10:g.40518711_40518712del, NC_000017.10:g.40518712del, NC_000017.10:g.40518712dup, NC_000017.10:g.40518711_40518712dup, NC_000017.10:g.40518710_40518712dup, NC_000017.10:g.40518708_40518712dup, NG_007370.1:g.26811_26825del, NG_007370.1:g.26812_26825del, NG_007370.1:g.26813_26825del, NG_007370.1:g.26814_26825del, NG_007370.1:g.26815_26825del, NG_007370.1:g.26816_26825del, NG_007370.1:g.26817_26825del, NG_007370.1:g.26818_26825del, NG_007370.1:g.26820_26825del, NG_007370.1:g.26821_26825del, NG_007370.1:g.26822_26825del, NG_007370.1:g.26823_26825del, NG_007370.1:g.26824_26825del, NG_007370.1:g.26825del, NG_007370.1:g.26825dup, NG_007370.1:g.26824_26825dup, NG_007370.1:g.26823_26825dup, NG_007370.1:g.26821_26825dup

Select item 149134190311.

rs1491341903 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:42321115 (GRCh38)
17:40473134 (GRCh37)
Canonical SPDI:: NC_000017.11:42321115::C
Gene:: STAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.42321115_42321116insC, NC_000017.10:g.40473133_40473134insC, NG_007370.1:g.72380_72381insG

Select item 149132527612.

rs1491325276 has merged into rs67178732 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 17:42356548 (GRCh38)
17:40508566 (GRCh37)
Canonical SPDI:: NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42356539:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: STAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.13167/79 (NorthernSweden)
HGVS:: NC_000017.11:g.42356548_42356552del, NC_000017.11:g.42356549_42356552del, NC_000017.11:g.42356550_42356552del, NC_000017.11:g.42356551_42356552del, NC_000017.11:g.42356552del, NC_000017.11:g.42356552dup, NC_000017.11:g.42356551_42356552dup, NC_000017.11:g.42356550_42356552dup, NC_000017.11:g.42356549_42356552dup, NC_000017.11:g.42356548_42356552dup, NC_000017.10:g.40508566_40508570del, NC_000017.10:g.40508567_40508570del, NC_000017.10:g.40508568_40508570del, NC_000017.10:g.40508569_40508570del, NC_000017.10:g.40508570del, NC_000017.10:g.40508570dup, NC_000017.10:g.40508569_40508570dup, NC_000017.10:g.40508568_40508570dup, NC_000017.10:g.40508567_40508570dup, NC_000017.10:g.40508566_40508570dup, NG_007370.1:g.36952_36956del, NG_007370.1:g.36953_36956del, NG_007370.1:g.36954_36956del, NG_007370.1:g.36955_36956del, NG_007370.1:g.36956del, NG_007370.1:g.36956dup, NG_007370.1:g.36955_36956dup, NG_007370.1:g.36954_36956dup, NG_007370.1:g.36953_36956dup, NG_007370.1:g.36952_36956dup

Select item 149131123713.

rs1491311237 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:42384133 (GRCh38)
17:40536152 (GRCh37)
Canonical SPDI:: NC_000017.11:42384133::A
Gene:: STAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
A=0.00025/2 (TOMMO)
A=0.00203/47 (GnomAD)
A=0.04571/16 (NorthernSweden)
HGVS:: NC_000017.11:g.42384133_42384134insA, NC_000017.10:g.40536151_40536152insA, NG_007370.1:g.9362_9363insT

Select item 149126015114.

rs1491260151 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:42385508 (GRCh38)
17:40537526 (GRCh37)
Canonical SPDI:: NC_000017.11:42385507:CA:
Gene:: STAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42385508_42385509del, NC_000017.10:g.40537526_40537527del, NG_007370.1:g.7987_7988del

Select item 149122722615.

rs1491227226 has merged into rs371933640 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:42384142 (GRCh38)
17:40536160 (GRCh37)
Canonical SPDI:: NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42384132:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STAT3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.25/2 (KOREAN)
HGVS:: NC_000017.11:g.42384142_42384146del, NC_000017.11:g.42384143_42384146del, NC_000017.11:g.42384144_42384146del, NC_000017.11:g.42384145_42384146del, NC_000017.11:g.42384146del, NC_000017.11:g.42384146dup, NC_000017.11:g.42384145_42384146dup, NC_000017.11:g.42384144_42384146dup, NC_000017.11:g.42384143_42384146dup, NC_000017.11:g.42384142_42384146dup, NC_000017.11:g.42384141_42384146dup, NC_000017.11:g.42384139_42384146dup, NC_000017.11:g.42384138_42384146dup, NC_000017.11:g.42384136_42384146dup, NC_000017.10:g.40536160_40536164del, NC_000017.10:g.40536161_40536164del, NC_000017.10:g.40536162_40536164del, NC_000017.10:g.40536163_40536164del, NC_000017.10:g.40536164del, NC_000017.10:g.40536164dup, NC_000017.10:g.40536163_40536164dup, NC_000017.10:g.40536162_40536164dup, NC_000017.10:g.40536161_40536164dup, NC_000017.10:g.40536160_40536164dup, NC_000017.10:g.40536159_40536164dup, NC_000017.10:g.40536157_40536164dup, NC_000017.10:g.40536156_40536164dup, NC_000017.10:g.40536154_40536164dup, NG_007370.1:g.9359_9363del, NG_007370.1:g.9360_9363del, NG_007370.1:g.9361_9363del, NG_007370.1:g.9362_9363del, NG_007370.1:g.9363del, NG_007370.1:g.9363dup, NG_007370.1:g.9362_9363dup, NG_007370.1:g.9361_9363dup, NG_007370.1:g.9360_9363dup, NG_007370.1:g.9359_9363dup, NG_007370.1:g.9358_9363dup, NG_007370.1:g.9356_9363dup, NG_007370.1:g.9355_9363dup, NG_007370.1:g.9353_9363dup

Select item 149121075716.

rs1491210757 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:42391315 (GRCh38)
17:40543333 (GRCh37)
Canonical SPDI:: NC_000017.11:42391314:AT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00238/67 (TOMMO)
HGVS:: NC_000017.11:g.42391315_42391316del, NC_000017.10:g.40543333_40543334del, NG_007370.1:g.2180_2181del

Select item 149119694917.

rs1491196949 has merged into rs552897255 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:42319553 (GRCh38)
17:40471571 (GRCh37)
Canonical SPDI:: NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42319541:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: STAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.0002/53 (TOPMED)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000017.11:g.42319553_42319568del, NC_000017.11:g.42319554_42319568del, NC_000017.11:g.42319555_42319568del, NC_000017.11:g.42319556_42319568del, NC_000017.11:g.42319557_42319568del, NC_000017.11:g.42319558_42319568del, NC_000017.11:g.42319559_42319568del, NC_000017.11:g.42319560_42319568del, NC_000017.11:g.42319561_42319568del, NC_000017.11:g.42319562_42319568del, NC_000017.11:g.42319563_42319568del, NC_000017.11:g.42319564_42319568del, NC_000017.11:g.42319565_42319568del, NC_000017.11:g.42319566_42319568del, NC_000017.11:g.42319567_42319568del, NC_000017.11:g.42319568del, NC_000017.11:g.42319568dup, NC_000017.11:g.42319567_42319568dup, NC_000017.11:g.42319566_42319568dup, NC_000017.11:g.42319565_42319568dup, NC_000017.11:g.42319564_42319568dup, NC_000017.11:g.42319563_42319568dup, NC_000017.10:g.40471571_40471586del, NC_000017.10:g.40471572_40471586del, NC_000017.10:g.40471573_40471586del, NC_000017.10:g.40471574_40471586del, NC_000017.10:g.40471575_40471586del, NC_000017.10:g.40471576_40471586del, NC_000017.10:g.40471577_40471586del, NC_000017.10:g.40471578_40471586del, NC_000017.10:g.40471579_40471586del, NC_000017.10:g.40471580_40471586del, NC_000017.10:g.40471581_40471586del, NC_000017.10:g.40471582_40471586del, NC_000017.10:g.40471583_40471586del, NC_000017.10:g.40471584_40471586del, NC_000017.10:g.40471585_40471586del, NC_000017.10:g.40471586del, NC_000017.10:g.40471586dup, NC_000017.10:g.40471585_40471586dup, NC_000017.10:g.40471584_40471586dup, NC_000017.10:g.40471583_40471586dup, NC_000017.10:g.40471582_40471586dup, NC_000017.10:g.40471581_40471586dup, NG_007370.1:g.73939_73954del, NG_007370.1:g.73940_73954del, NG_007370.1:g.73941_73954del, NG_007370.1:g.73942_73954del, NG_007370.1:g.73943_73954del, NG_007370.1:g.73944_73954del, NG_007370.1:g.73945_73954del, NG_007370.1:g.73946_73954del, NG_007370.1:g.73947_73954del, NG_007370.1:g.73948_73954del, NG_007370.1:g.73949_73954del, NG_007370.1:g.73950_73954del, NG_007370.1:g.73951_73954del, NG_007370.1:g.73952_73954del, NG_007370.1:g.73953_73954del, NG_007370.1:g.73954del, NG_007370.1:g.73954dup, NG_007370.1:g.73953_73954dup, NG_007370.1:g.73952_73954dup, NG_007370.1:g.73951_73954dup, NG_007370.1:g.73950_73954dup, NG_007370.1:g.73949_73954dup

Select item 149119311718.

rs1491193117 has merged into rs56055491 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:42334449 (GRCh38)
17:40486467 (GRCh37)
Canonical SPDI:: NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42334439:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.42334449_42334462del, NC_000017.11:g.42334450_42334462del, NC_000017.11:g.42334451_42334462del, NC_000017.11:g.42334452_42334462del, NC_000017.11:g.42334455_42334462del, NC_000017.11:g.42334457_42334462del, NC_000017.11:g.42334458_42334462del, NC_000017.11:g.42334459_42334462del, NC_000017.11:g.42334460_42334462del, NC_000017.11:g.42334461_42334462del, NC_000017.11:g.42334462del, NC_000017.11:g.42334462dup, NC_000017.11:g.42334461_42334462dup, NC_000017.11:g.42334460_42334462dup, NC_000017.11:g.42334459_42334462dup, NC_000017.11:g.42334458_42334462dup, NC_000017.11:g.42334457_42334462dup, NC_000017.11:g.42334456_42334462dup, NC_000017.11:g.42334445_42334462dup, NC_000017.11:g.42334441_42334462dup, NC_000017.10:g.40486467_40486480del, NC_000017.10:g.40486468_40486480del, NC_000017.10:g.40486469_40486480del, NC_000017.10:g.40486470_40486480del, NC_000017.10:g.40486473_40486480del, NC_000017.10:g.40486475_40486480del, NC_000017.10:g.40486476_40486480del, NC_000017.10:g.40486477_40486480del, NC_000017.10:g.40486478_40486480del, NC_000017.10:g.40486479_40486480del, NC_000017.10:g.40486480del, NC_000017.10:g.40486480dup, NC_000017.10:g.40486479_40486480dup, NC_000017.10:g.40486478_40486480dup, NC_000017.10:g.40486477_40486480dup, NC_000017.10:g.40486476_40486480dup, NC_000017.10:g.40486475_40486480dup, NC_000017.10:g.40486474_40486480dup, NC_000017.10:g.40486463_40486480dup, NC_000017.10:g.40486459_40486480dup, NG_007370.1:g.59043_59056del, NG_007370.1:g.59044_59056del, NG_007370.1:g.59045_59056del, NG_007370.1:g.59046_59056del, NG_007370.1:g.59049_59056del, NG_007370.1:g.59051_59056del, NG_007370.1:g.59052_59056del, NG_007370.1:g.59053_59056del, NG_007370.1:g.59054_59056del, NG_007370.1:g.59055_59056del, NG_007370.1:g.59056del, NG_007370.1:g.59056dup, NG_007370.1:g.59055_59056dup, NG_007370.1:g.59054_59056dup, NG_007370.1:g.59053_59056dup, NG_007370.1:g.59052_59056dup, NG_007370.1:g.59051_59056dup, NG_007370.1:g.59050_59056dup, NG_007370.1:g.59039_59056dup, NG_007370.1:g.59035_59056dup

Select item 149113937919.

rs1491139379 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:42351129 (GRCh38)
17:40503147 (GRCh37)
Canonical SPDI:: NC_000017.11:42351128:CA:
Gene:: STAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.42351129_42351130del, NC_000017.10:g.40503147_40503148del, NG_007370.1:g.42366_42367del

Select item 149113812420.

rs1491138124 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
Chromosome:: no mapping
Canonical SPDI:

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