SNP Links for Gene (Select 30837) - SNP

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Select item 14915838401.

rs1491583840 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 17:38389882 (GRCh38)
17:36546050 (GRCh37)
Canonical SPDI:: NC_000017.11:38389882::AG
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000017.11:g.38389882_38389883insAG, NW_003315948.2:g.173434_173435insAG, NC_000017.10:g.36546049_36546050insAG, NT_187614.1:g.2425115_2425116insAG

Select item 14915492522.

rs1491549252 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATATATATGTA [Show Flanks]
Chromosome:: 17:38389869 (GRCh38)
17:36546037 (GRCh37)
Canonical SPDI:: NC_000017.11:38389869:TATATATATATATGTA:TATATATATATATGTATATATATATATGTA
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATATATATGTATATATATATATGTA=0./0 (ALFA)
TATATATATATATG=0.00014/11 (GnomAD)
HGVS:: NC_000017.11:g.38389872_38389885dup, NW_003315948.2:g.173424_173437dup, NC_000017.10:g.36546039_36546052dup, NT_187614.1:g.2425105_2425118dup

Select item 14915062653.

rs1491506265 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT [Show Flanks]
Chromosome:: 17:38389883 (GRCh38)
17:36546050 (GRCh37)
Canonical SPDI:: NC_000017.11:38389881:TGT:T,NC_000017.11:38389881:TGT:TGTGT,NC_000017.11:38389881:TGT:TGTGTGT
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TG=0.000011/1 (GnomAD)
-=0.000695/11 (TOMMO)
HGVS:: NC_000017.11:g.38389883_38389884del, NC_000017.11:g.38389883_38389884dup, NC_000017.11:g.38389883GT[3], NW_003315948.2:g.173435_173436del, NW_003315948.2:g.173435_173436dup, NW_003315948.2:g.173435GT[3], NC_000017.10:g.36546050_36546051del, NC_000017.10:g.36546050_36546051dup, NC_000017.10:g.36546050GT[3], NT_187614.1:g.2425116_2425117del, NT_187614.1:g.2425116_2425117dup, NT_187614.1:g.2425116GT[3]

Select item 14914967534.

rs1491496753 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:38387565 (GRCh38)
17:36543740 (GRCh37)
Canonical SPDI:: NC_000017.11:38387564:AA:
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.38387565_38387566del, NW_003315948.2:g.171125T>A, NW_003315948.2:g.171126AT[1], NC_000017.10:g.36543740T>A, NC_000017.10:g.36543741AT[1], NT_187614.1:g.2422806T>A, NT_187614.1:g.2422807AT[1]

Select item 14914575395.

rs1491457539 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 17:38385434 (GRCh38)
17:36541258 (GRCh37)
Canonical SPDI:: NC_000017.11:38385432:TTT:T
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38385434_38385435del, NW_003315948.2:g.168648_168649del, NC_000017.10:g.36541263_36541264del, NT_187614.1:g.2420329_2420330del

Select item 14914479906.

rs1491447990 has merged into rs1173072758 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 17:38387551 (GRCh38)
17:36543731 (GRCh37)
Canonical SPDI:: NC_000017.11:38387544:TATATATATA:TATATA,NC_000017.11:38387544:TATATATATA:TATATATA,NC_000017.11:38387544:TATATATATA:TATATATATATA
Gene:: SOCS7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATATATA=0./0 (ALFA)
TA=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.38387545TA[3], NC_000017.11:g.38387545TA[4], NC_000017.11:g.38387545TA[6], NW_003315948.2:g.171109_171110insT, NW_003315948.2:g.171107ATA[1], NW_003315948.2:g.171110del, NW_003315948.2:g.171109_171110insTAT, NT_187614.1:g.2422790_2422791insT, NT_187614.1:g.2422788ATA[1], NT_187614.1:g.2422791del, NT_187614.1:g.2422790_2422791insTAT, NC_000017.10:g.36543724_36543725insT, NC_000017.10:g.36543722ATA[1], NC_000017.10:g.36543725del, NC_000017.10:g.36543724_36543725insTAT

Select item 14914261447.

rs1491426144 has merged into rs1368366565 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 17:38385458 (GRCh38)
17:36541278 (GRCh37)
Canonical SPDI:: NC_000017.11:38385445:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:38385445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:38385445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:38385445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:38385445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.38385458_38385460del, NC_000017.11:g.38385459_38385460del, NC_000017.11:g.38385460del, NC_000017.11:g.38385460dup, NC_000017.11:g.38385459_38385460dup, NW_003315948.2:g.168664_168666del, NW_003315948.2:g.168665_168666del, NW_003315948.2:g.168666del, NW_003315948.2:g.168666dup, NW_003315948.2:g.168665_168666dup, NC_000017.10:g.36541279_36541281del, NC_000017.10:g.36541280_36541281del, NC_000017.10:g.36541281del, NC_000017.10:g.36541281dup, NC_000017.10:g.36541280_36541281dup, NT_187614.1:g.2420345_2420347del, NT_187614.1:g.2420346_2420347del, NT_187614.1:g.2420347del, NT_187614.1:g.2420347dup, NT_187614.1:g.2420346_2420347dup

Select item 14914179178.

rs1491417917 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 17:38387565 (GRCh38)
17:36543739 (GRCh37)
Canonical SPDI:: NC_000017.11:38387565::GT
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GT=0./0 (ALFA)
HGVS:: NC_000017.11:g.38387565_38387566insGT, NW_003315948.2:g.171124_171125dup, NC_000017.10:g.36543739_36543740dup, NT_187614.1:g.2422805_2422806dup

Select item 14913813529.

rs1491381352 has merged into rs58800510 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 17:38403624 (GRCh38)
17:36559877 (GRCh37)
Canonical SPDI:: NC_000017.11:38403610:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000017.11:38403610:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000017.11:38403610:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000017.11:38403610:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000017.11:38403610:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:38403610:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.005/3 (NorthernSweden)
HGVS:: NC_000017.11:g.38403612GT[6], NC_000017.11:g.38403612GT[7], NC_000017.11:g.38403612GT[8], NC_000017.11:g.38403612GT[10], NC_000017.11:g.38403612GT[11], NC_000017.11:g.38403612GT[12], NT_187614.1:g.2438931GT[6], NT_187614.1:g.2438931GT[7], NT_187614.1:g.2438931GT[8], NT_187614.1:g.2438931GT[10], NT_187614.1:g.2438931GT[11], NT_187614.1:g.2438931GT[12], NC_000017.10:g.36559865GT[6], NC_000017.10:g.36559865GT[7], NC_000017.10:g.36559865GT[8], NC_000017.10:g.36559865GT[10], NC_000017.10:g.36559865GT[11], NC_000017.10:g.36559865GT[12], NW_003315948.2:g.187250GT[6], NW_003315948.2:g.187250GT[7], NW_003315948.2:g.187250GT[8], NW_003315948.2:g.187250GT[10], NW_003315948.2:g.187250GT[11], NW_003315948.2:g.187250GT[12], NM_014598.4:c.*4130GT[6], NM_014598.4:c.*4130GT[7], NM_014598.4:c.*4130GT[8], NM_014598.4:c.*4130GT[10], NM_014598.4:c.*4130GT[11], NM_014598.4:c.*4130GT[12], NM_014598.3:c.*4130GT[6], NM_014598.3:c.*4130GT[7], NM_014598.3:c.*4130GT[8], NM_014598.3:c.*4130GT[10], NM_014598.3:c.*4130GT[11], NM_014598.3:c.*4130GT[12], NM_014598.2:c.*4130GT[6], NM_014598.2:c.*4130GT[7], NM_014598.2:c.*4130GT[8], NM_014598.2:c.*4130GT[10], NM_014598.2:c.*4130GT[11], NM_014598.2:c.*4130GT[12], XM_017024551.2:c.*4130GT[6], XM_017024551.2:c.*4130GT[7], XM_017024551.2:c.*4130GT[8], XM_017024551.2:c.*4130GT[10], XM_017024551.2:c.*4130GT[11], XM_017024551.2:c.*4130GT[12], XM_017024551.1:c.*4130GT[6], XM_017024551.1:c.*4130GT[7], XM_017024551.1:c.*4130GT[8], XM_017024551.1:c.*4130GT[10], XM_017024551.1:c.*4130GT[11], XM_017024551.1:c.*4130GT[12], XM_017024552.2:c.*4130GT[6], XM_017024552.2:c.*4130GT[7], XM_017024552.2:c.*4130GT[8], XM_017024552.2:c.*4130GT[10], XM_017024552.2:c.*4130GT[11], XM_017024552.2:c.*4130GT[12], XM_017024552.1:c.*4130GT[6], XM_017024552.1:c.*4130GT[7], XM_017024552.1:c.*4130GT[8], XM_017024552.1:c.*4130GT[10], XM_017024552.1:c.*4130GT[11], XM_017024552.1:c.*4130GT[12]

Select item 149131490510.

rs1491314905 has merged into rs55949628 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:38381958 (GRCh38)
17:36537784 (GRCh37)
Canonical SPDI:: NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38381946:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000404/107 (TOPMED)
HGVS:: NC_000017.11:g.38381958_38381974del, NC_000017.11:g.38381960_38381974del, NC_000017.11:g.38381961_38381974del, NC_000017.11:g.38381962_38381974del, NC_000017.11:g.38381963_38381974del, NC_000017.11:g.38381964_38381974del, NC_000017.11:g.38381965_38381974del, NC_000017.11:g.38381966_38381974del, NC_000017.11:g.38381967_38381974del, NC_000017.11:g.38381968_38381974del, NC_000017.11:g.38381969_38381974del, NC_000017.11:g.38381970_38381974del, NC_000017.11:g.38381971_38381974del, NC_000017.11:g.38381972_38381974del, NC_000017.11:g.38381973_38381974del, NC_000017.11:g.38381974del, NC_000017.11:g.38381974dup, NC_000017.11:g.38381973_38381974dup, NC_000017.11:g.38381972_38381974dup, NC_000017.11:g.38381971_38381974dup, NC_000017.11:g.38381969_38381974dup, NC_000017.11:g.38381967_38381974dup, NC_000017.11:g.38381964_38381974dup, NW_003315948.2:g.165184dup, NW_003315948.2:g.165169_165184del, NW_003315948.2:g.165171_165184del, NW_003315948.2:g.165172_165184del, NW_003315948.2:g.165173_165184del, NW_003315948.2:g.165174_165184del, NW_003315948.2:g.165175_165184del, NW_003315948.2:g.165176_165184del, NW_003315948.2:g.165177_165184del, NW_003315948.2:g.165178_165184del, NW_003315948.2:g.165179_165184del, NW_003315948.2:g.165180_165184del, NW_003315948.2:g.165181_165184del, NW_003315948.2:g.165182_165184del, NW_003315948.2:g.165183_165184del, NW_003315948.2:g.165184del, NW_003315948.2:g.165183_165184dup, NW_003315948.2:g.165182_165184dup, NW_003315948.2:g.165181_165184dup, NW_003315948.2:g.165180_165184dup, NW_003315948.2:g.165178_165184dup, NW_003315948.2:g.165176_165184dup, NW_003315948.2:g.165173_165184dup, NT_187614.1:g.2416865dup, NT_187614.1:g.2416850_2416865del, NT_187614.1:g.2416852_2416865del, NT_187614.1:g.2416853_2416865del, NT_187614.1:g.2416854_2416865del, NT_187614.1:g.2416855_2416865del, NT_187614.1:g.2416856_2416865del, NT_187614.1:g.2416857_2416865del, NT_187614.1:g.2416858_2416865del, NT_187614.1:g.2416859_2416865del, NT_187614.1:g.2416860_2416865del, NT_187614.1:g.2416861_2416865del, NT_187614.1:g.2416862_2416865del, NT_187614.1:g.2416863_2416865del, NT_187614.1:g.2416864_2416865del, NT_187614.1:g.2416865del, NT_187614.1:g.2416864_2416865dup, NT_187614.1:g.2416863_2416865dup, NT_187614.1:g.2416862_2416865dup, NT_187614.1:g.2416861_2416865dup, NT_187614.1:g.2416859_2416865dup, NT_187614.1:g.2416857_2416865dup, NT_187614.1:g.2416854_2416865dup, NC_000017.10:g.36537799dup, NC_000017.10:g.36537784_36537799del, NC_000017.10:g.36537786_36537799del, NC_000017.10:g.36537787_36537799del, NC_000017.10:g.36537788_36537799del, NC_000017.10:g.36537789_36537799del, NC_000017.10:g.36537790_36537799del, NC_000017.10:g.36537791_36537799del, NC_000017.10:g.36537792_36537799del, NC_000017.10:g.36537793_36537799del, NC_000017.10:g.36537794_36537799del, NC_000017.10:g.36537795_36537799del, NC_000017.10:g.36537796_36537799del, NC_000017.10:g.36537797_36537799del, NC_000017.10:g.36537798_36537799del, NC_000017.10:g.36537799del, NC_000017.10:g.36537798_36537799dup, NC_000017.10:g.36537797_36537799dup, NC_000017.10:g.36537796_36537799dup, NC_000017.10:g.36537795_36537799dup, NC_000017.10:g.36537793_36537799dup, NC_000017.10:g.36537791_36537799dup, NC_000017.10:g.36537788_36537799dup

Select item 149129591611.

rs1491295916 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:38387544 (GRCh38)
17:36543720 (GRCh37)
Canonical SPDI:: NC_000017.11:38387543:GT:
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000039/5 (GnomAD)
HGVS:: NC_000017.11:g.38387544_38387545del, NW_003315948.2:g.171105_171106del, NC_000017.10:g.36543720_36543721del, NT_187614.1:g.2422786_2422787del

Select item 149126949012.

rs1491269490 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:38381946 (GRCh38)
17:36537772 (GRCh37)
Canonical SPDI:: NC_000017.11:38381945:CA:
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.38381946_38381947del, NW_003315948.2:g.165157_165158del, NC_000017.10:g.36537772_36537773del, NT_187614.1:g.2416838_2416839del

Select item 149121153413.

rs1491211534 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:38403610 (GRCh38)
17:36559863 (GRCh37)
Canonical SPDI:: NC_000017.11:38403609:AT:
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.38403610_38403611del, NT_187614.1:g.2438929_2438930del, NC_000017.10:g.36559863_36559864del, NW_003315948.2:g.187248_187249del, NM_014598.4:c.*4128_*4129del, NM_014598.3:c.*4128_*4129del, NM_014598.2:c.*4128_*4129del, XM_017024551.2:c.*4128_*4129del, XM_017024551.1:c.*4128_*4129del, XM_017024552.2:c.*4128_*4129del, XM_017024552.1:c.*4128_*4129del

Select item 149112508814.

rs1491125088 has merged into rs1463868655 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATGTGTACATATATATATGTACATATATATATATATAT,ATATATGTGTACATATATATATGTACATATATATATATGTACATATATATATATATAT,ATATATGTGTGTACATATATATATGTACATATATATATGTACATATATATATATATAT,ATATGTACATATATATATATATAT,ATATGTACATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 17:38389881 (GRCh38)
17:36546047 (GRCh37)
Canonical SPDI:: NC_000017.11:38389868:ATATATATATATAT:ATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATATATGTGTACATATATATATGTACATATATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATATATGTGTACATATATATATGTACATATATATATATGTACATATATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATATATGTGTGTACATATATATATGTACATATATATATGTACATATATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATATGTACATATATATATATATAT,NC_000017.11:38389868:ATATATATATATAT:ATATATATATATATATGTACATATATATATATATATATATATAT
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.38389869AT[6], NC_000017.11:g.38389869AT[8], NC_000017.11:g.38389869AT[9], NC_000017.11:g.38389869AT[10], NC_000017.11:g.38389869AT[11], NC_000017.11:g.38389869AT[12], NC_000017.11:g.38389869_38389882AT[9]GT[2]ACATATATATATGTACATATATATATATATAT[1], NC_000017.11:g.38389869_38389882AT[9]GT[2]ACATATATATATGTACATATATATATATGTACATATATATATATATAT[1], NC_000017.11:g.38389869_38389882AT[9]GT[3]ACATATATATATGT[2]ACATATATATATATATAT[1], NC_000017.11:g.38389869_38389882AT[8]GTACATATATATATATATAT[1], NC_000017.11:g.38389869_38389882AT[8]GTACATATATATATATATATATATATAT[1], NW_003315948.2:g.173421AT[6], NW_003315948.2:g.173421AT[8], NW_003315948.2:g.173421AT[9], NW_003315948.2:g.173421AT[10], NW_003315948.2:g.173421AT[11], NW_003315948.2:g.173421AT[12], NW_003315948.2:g.173420_173434TA[9]TG[2]TACATATATATATGTACATATATATATATATAT[1], NW_003315948.2:g.173420_173434TA[9]TG[2]TACATATATATATGTACATATATATATATGTACATATATATATATATAT[1], NW_003315948.2:g.173420_173434TA[9]TG[3]TACATATATATATG[2]TACATATATATATATATAT[1], NW_003315948.2:g.173420_173434TA[8]TGTACATATATATATATATAT[1], NW_003315948.2:g.173420_173434TA[8]TGTACATATATATATATATATATATATAT[1], NC_000017.10:g.36546036AT[6], NC_000017.10:g.36546036AT[8], NC_000017.10:g.36546036AT[9], NC_000017.10:g.36546036AT[10], NC_000017.10:g.36546036AT[11], NC_000017.10:g.36546036AT[12], NC_000017.10:g.36546035_36546049TA[9]TG[2]TACATATATATATGTACATATATATATATATAT[1], NC_000017.10:g.36546035_36546049TA[9]TG[2]TACATATATATATGTACATATATATATATGTACATATATATATATATAT[1], NC_000017.10:g.36546035_36546049TA[9]TG[3]TACATATATATATG[2]TACATATATATATATATAT[1], NC_000017.10:g.36546035_36546049TA[8]TGTACATATATATATATATAT[1], NC_000017.10:g.36546035_36546049TA[8]TGTACATATATATATATATATATATATAT[1], NT_187614.1:g.2425102AT[6], NT_187614.1:g.2425102AT[8], NT_187614.1:g.2425102AT[9], NT_187614.1:g.2425102AT[10], NT_187614.1:g.2425102AT[11], NT_187614.1:g.2425102AT[12], NT_187614.1:g.2425101_2425115TA[9]TG[2]TACATATATATATGTACATATATATATATATAT[1], NT_187614.1:g.2425101_2425115TA[9]TG[2]TACATATATATATGTACATATATATATATGTACATATATATATATATAT[1], NT_187614.1:g.2425101_2425115TA[9]TG[3]TACATATATATATG[2]TACATATATATATATATAT[1], NT_187614.1:g.2425101_2425115TA[8]TGTACATATATATATATATAT[1], NT_187614.1:g.2425101_2425115TA[8]TGTACATATATATATATATATATATATAT[1]

Select item 149108928015.

rs1491089280 [Homo sapiens]

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

Select item 149099366216.

rs1490993662 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 17:38374649 (GRCh38)
17:36530475 (GRCh37)
Canonical SPDI:: NC_000017.11:38374645:AAGAAG:AAG
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.38374646AAG[1], NW_003315948.2:g.157857AAG[1], NC_000017.10:g.36530472AAG[1], NT_187614.1:g.2409538AAG[1]

Select item 149096564617.

rs1490965646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38360100 (GRCh38)
17:36515983 (GRCh37)
Canonical SPDI:: NC_000017.11:38360099:A:G
Gene:: SOCS7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38360100A>G, NT_187614.1:g.2395049A>G, NW_003315948.2:g.143368A>G, NC_000017.10:g.36515983A>G

Select item 149096260618.

rs1490962606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38375722 (GRCh38)
17:36531548 (GRCh37)
Canonical SPDI:: NC_000017.11:38375721:A:G
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.38375722A>G, NW_003315948.2:g.158933A>G, NC_000017.10:g.36531548A>G, NT_187614.1:g.2410614A>G

Select item 149094982519.

rs1490949825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38383446 (GRCh38)
17:36539271 (GRCh37)
Canonical SPDI:: NC_000017.11:38383445:C:T
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.38383446C>T, NW_003315948.2:g.166656C>T, NC_000017.10:g.36539271C>T, NT_187614.1:g.2418337C>T

Select item 149089804320.

rs1490898043 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:38381351 (GRCh38)
17:36537177 (GRCh37)
Canonical SPDI:: NC_000017.11:38381350:T:
Gene:: SOCS7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000024/3 (GnomAD)
HGVS:: NC_000017.11:g.38381351del, NW_003315948.2:g.164562del, NC_000017.10:g.36537177del, NT_187614.1:g.2416243del

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