SNP Links for Gene (Select 1998) - SNP

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Select item 14915276341.

rs1491527634 has merged into rs200960725 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:139116374 (GRCh38)
4:140037528 (GRCh37)
Canonical SPDI:: NC_000004.12:139116363:AAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:139116363:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:139116363:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:139116363:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.139116374_139116375del, NC_000004.12:g.139116375del, NC_000004.12:g.139116375dup, NC_000004.12:g.139116374_139116375dup, NC_000004.11:g.140037528_140037529del, NC_000004.11:g.140037529del, NC_000004.11:g.140037529dup, NC_000004.11:g.140037528_140037529dup

Select item 14915204152.

rs1491520415 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:139136664 (GRCh38)
4:140057818 (GRCh37)
Canonical SPDI:: NC_000004.12:139136661:CTCT:CT
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000674/11 (ALFA)
-=0.000619/78 (GnomAD)
HGVS:: NC_000004.12:g.139136662CT[1], NC_000004.11:g.140057816CT[1]

Select item 14915034733.

rs1491503473 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:139092366 (GRCh38)
4:140013520 (GRCh37)
Canonical SPDI:: NC_000004.12:139092365:TC:
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00489/58 (ALFA)
HGVS:: NC_000004.12:g.139092366_139092367del, NC_000004.11:g.140013520_140013521del

Select item 14914984884.

rs1491498488 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:139151040 (GRCh38)
4:140072194 (GRCh37)
Canonical SPDI:: NC_000004.12:139151038:AGA:A
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00005/3 (GnomAD)
HGVS:: NC_000004.12:g.139151040_139151041del, NC_000004.11:g.140072194_140072195del

Select item 14914646055.

rs1491464605 has merged into rs1257335460 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:139151082 (GRCh38)
4:140072236 (GRCh37)
Canonical SPDI:: NC_000004.12:139151080:AAA:A,NC_000004.12:139151080:AAA:AA,NC_000004.12:139151080:AAA:AAAA,NC_000004.12:139151080:AAA:AAAAA
Gene:: ELF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000017/2 (GnomAD)
HGVS:: NC_000004.12:g.139151082_139151083del, NC_000004.12:g.139151083del, NC_000004.12:g.139151083dup, NC_000004.12:g.139151082_139151083dup, NC_000004.11:g.140072236_140072237del, NC_000004.11:g.140072237del, NC_000004.11:g.140072237dup, NC_000004.11:g.140072236_140072237dup

Select item 14914612826.

rs1491461282 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:139136041 (GRCh38)
4:140057196 (GRCh37)
Canonical SPDI:: NC_000004.12:139136041:T:TT
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.139136042dup, NC_000004.11:g.140057196dup

Select item 14914553897.

rs1491455389 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:139102494 (GRCh38)
4:140023648 (GRCh37)
Canonical SPDI:: NC_000004.12:139102493:AG:
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00025/7 (TOMMO)
HGVS:: NC_000004.12:g.139102494_139102495del, NC_000004.11:g.140023648_140023649del

Select item 14914507348.

rs1491450734 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAGA,GAAAGAAAGA [Show Flanks]
Chromosome:: 4:139151081 (GRCh38)
4:140072236 (GRCh37)
Canonical SPDI:: NC_000004.12:139151081:A:AGAAAGA,NC_000004.12:139151081:A:AGAAAGAAAGA
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAAAGAAAGA=0./0 (ALFA)
AGAAAGAAAG=0.000792/107 (GnomAD)
HGVS:: NC_000004.12:g.139151082_139151083insGAAAGA, NC_000004.12:g.139151082AGAA[2]AGA[1], NC_000004.11:g.140072236_140072237insGAAAGA, NC_000004.11:g.140072236AGAA[2]AGA[1]

Select item 14914485789.

rs1491448578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAG [Show Flanks]
Chromosome:: 4:139151089 (GRCh38)
4:140072244 (GRCh37)
Canonical SPDI:: NC_000004.12:139151089:AAG:AAGGAAG
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: AAGG=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.139151092_139151093insGAAG, NC_000004.11:g.140072246_140072247insGAAG

Select item 149144301610.

rs1491443016 has merged into rs147578091 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGAGA [Show Flanks]
Chromosome:: 4:139164145 (GRCh38)
4:140085299 (GRCh37)
Canonical SPDI:: NC_000004.12:139164139:AGAGAGAGA:AGAGA,NC_000004.12:139164139:AGAGAGAGA:AGAGAGA,NC_000004.12:139164139:AGAGAGAGA:AGAGAGAGAGAGA
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGA=0./0 (ALFA)
-=0.00005/1 (TOMMO)
-=0.00055/1 (Korea1K)
-=0.01837/92 (1000Genomes)
-=0.07201/267 (TWINSUK)
-=0.07816/78 (GoNL)
-=0.0794/306 (ALSPAC)
-=0.10333/62 (NorthernSweden)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000004.12:g.139164141GA[2], NC_000004.12:g.139164141GA[3], NC_000004.12:g.139164141GA[6], NC_000004.11:g.140085295GA[2], NC_000004.11:g.140085295GA[3], NC_000004.11:g.140085295GA[6]

Select item 149142739511.

rs1491427395 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAG,GAGAG,GAGAGAG [Show Flanks]
Chromosome:: 4:139151093 (GRCh38)
4:140072248 (GRCh37)
Canonical SPDI:: NC_000004.12:139151093::GAG,NC_000004.12:139151093::GAGAG,NC_000004.12:139151093::GAGAGAG
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.139151093_139151094insGAG, NC_000004.12:g.139151093_139151094insGAGAG, NC_000004.12:g.139151093_139151094insGAGAGAG, NC_000004.11:g.140072247_140072248insGAG, NC_000004.11:g.140072247_140072248insGAGAG, NC_000004.11:g.140072247_140072248insGAGAGAG

Select item 149141942612.

rs1491419426 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAAC,ATAACATAAC,ATAACATAACATAAC [Show Flanks]
Chromosome:: 4:139092366 (GRCh38)
4:140013521 (GRCh37)
Canonical SPDI:: NC_000004.12:139092366:CATAAC:CATAACATAAC,NC_000004.12:139092366:CATAAC:CATAACATAACATAAC,NC_000004.12:139092366:CATAAC:CATAACATAACATAACATAAC
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATAACATAACATAAC=0./0 (ALFA)
HGVS:: NC_000004.12:g.139092368_139092372dup, NC_000004.12:g.139092368ATAAC[3], NC_000004.12:g.139092368ATAAC[4], NC_000004.11:g.140013522_140013526dup, NC_000004.11:g.140013522ATAAC[3], NC_000004.11:g.140013522ATAAC[4]

Select item 149140274413.

rs1491402744 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 4:139151046 (GRCh38)
4:140072201 (GRCh37)
Canonical SPDI:: NC_000004.12:139151046:AGA:AGAGA
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.139151048_139151049dup, NC_000004.11:g.140072202_140072203dup

Select item 149138873814.

rs1491388738 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:139111509 (GRCh38)
4:140032663 (GRCh37)
Canonical SPDI:: NC_000004.12:139111507:TGT:T
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.139111509_139111510del, NC_000004.11:g.140032663_140032664del

Select item 149138396015.

rs1491383960 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAT,ACAAAC,G,GCATAG,T [Show Flanks]
Chromosome:: 4:139092415 (GRCh38)
4:140013570 (GRCh37)
Canonical SPDI:: NC_000004.12:139092415::AAT,NC_000004.12:139092415::ACAAAC,NC_000004.12:139092415::G,NC_000004.12:139092415::GCATAG,NC_000004.12:139092415::T
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACAAAC=0./0 (ALFA)
HGVS:: NC_000004.12:g.139092415_139092416insAAT, NC_000004.12:g.139092415_139092416insACAAAC, NC_000004.12:g.139092415_139092416insG, NC_000004.12:g.139092415_139092416insGCATAG, NC_000004.12:g.139092415_139092416insT, NC_000004.11:g.140013569_140013570insAAT, NC_000004.11:g.140013569_140013570insACAAAC, NC_000004.11:g.140013569_140013570insG, NC_000004.11:g.140013569_140013570insGCATAG, NC_000004.11:g.140013569_140013570insT

Select item 149135638416.

rs1491356384 has merged into rs1232134753 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 4:139151090 (GRCh38)
4:140072244 (GRCh37)
Canonical SPDI:: NC_000004.12:139151088:AAA:A,NC_000004.12:139151088:AAA:AAAA
Gene:: ELF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.139151090_139151091del, NC_000004.12:g.139151091dup, NC_000004.11:g.140072244_140072245del, NC_000004.11:g.140072245dup

Select item 149134203317.

rs1491342033 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:139175783 (GRCh38)
4:140096937 (GRCh37)
Canonical SPDI:: NC_000004.12:139175782:AG:
Gene:: ELF2 (Varview), LOC105379412 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.139175783_139175784del, NC_000004.11:g.140096937_140096938del

Select item 149133863118.

rs1491338631 has merged into rs776035411 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 4:139114578 (GRCh38)
4:140035732 (GRCh37)
Canonical SPDI:: NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACA=0./0 (ALFA)
CACACACA=0.06293/37 (NorthernSweden)
CA=0.06587/1848 (TOMMO)
HGVS:: NC_000004.12:g.139114562CA[8], NC_000004.12:g.139114562CA[9], NC_000004.12:g.139114562CA[10], NC_000004.12:g.139114562CA[11], NC_000004.12:g.139114562CA[12], NC_000004.12:g.139114562CA[13], NC_000004.12:g.139114562CA[14], NC_000004.12:g.139114562CA[15], NC_000004.12:g.139114562CA[16], NC_000004.12:g.139114562CA[17], NC_000004.12:g.139114562CA[19], NC_000004.12:g.139114562CA[20], NC_000004.12:g.139114562CA[21], NC_000004.12:g.139114562CA[22], NC_000004.12:g.139114562CA[23], NC_000004.12:g.139114562CA[24], NC_000004.12:g.139114562CA[25], NC_000004.12:g.139114562CA[26], NC_000004.12:g.139114562CA[27], NC_000004.12:g.139114562CA[28], NC_000004.12:g.139114562CA[29], NC_000004.12:g.139114562CA[30], NC_000004.12:g.139114562CA[31], NC_000004.12:g.139114562CA[32], NC_000004.12:g.139114562CA[33], NC_000004.12:g.139114562CA[36], NC_000004.11:g.140035716CA[8], NC_000004.11:g.140035716CA[9], NC_000004.11:g.140035716CA[10], NC_000004.11:g.140035716CA[11], NC_000004.11:g.140035716CA[12], NC_000004.11:g.140035716CA[13], NC_000004.11:g.140035716CA[14], NC_000004.11:g.140035716CA[15], NC_000004.11:g.140035716CA[16], NC_000004.11:g.140035716CA[17], NC_000004.11:g.140035716CA[19], NC_000004.11:g.140035716CA[20], NC_000004.11:g.140035716CA[21], NC_000004.11:g.140035716CA[22], NC_000004.11:g.140035716CA[23], NC_000004.11:g.140035716CA[24], NC_000004.11:g.140035716CA[25], NC_000004.11:g.140035716CA[26], NC_000004.11:g.140035716CA[27], NC_000004.11:g.140035716CA[28], NC_000004.11:g.140035716CA[29], NC_000004.11:g.140035716CA[30], NC_000004.11:g.140035716CA[31], NC_000004.11:g.140035716CA[32], NC_000004.11:g.140035716CA[33], NC_000004.11:g.140035716CA[36]

Select item 149133816319.

rs1491338163 has merged into rs202190769 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 4:139126388 (GRCh38)
4:140047542 (GRCh37)
Canonical SPDI:: NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: ELF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0.0014/13 (ALFA)
-=0.0166/64 (ALSPAC)
-=0.0565/188 (1000Genomes)
HGVS:: NC_000004.12:g.139126388_139126389del, NC_000004.12:g.139126389del, NC_000004.12:g.139126389dup, NC_000004.11:g.140047542_140047543del, NC_000004.11:g.140047543del, NC_000004.11:g.140047543dup

Select item 149133528220.

rs1491335282 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:139113854 (GRCh38)
4:140035008 (GRCh37)
Canonical SPDI:: NC_000004.12:139113853:CA:
Gene:: ELF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00011/2 (GnomAD)
-=0.00701/27 (ALSPAC)
-=0.00728/27 (TWINSUK)
HGVS:: NC_000004.12:g.139113854_139113855del, NC_000004.11:g.140035008_140035009del

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