SNP Links for Gene (Select 101929268) - SNP

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Select item 14915211221.

rs1491521122 has merged into rs35388206 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:48606914 (GRCh38)
8:49519474 (GRCh37)
Canonical SPDI:: NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:48606905:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC101929268 (Varview), LINC02847 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.48606914_48606926del, NC_000008.11:g.48606916_48606926del, NC_000008.11:g.48606920_48606926del, NC_000008.11:g.48606921_48606926del, NC_000008.11:g.48606922_48606926del, NC_000008.11:g.48606923_48606926del, NC_000008.11:g.48606924_48606926del, NC_000008.11:g.48606925_48606926del, NC_000008.11:g.48606926del, NC_000008.11:g.48606926dup, NC_000008.11:g.48606925_48606926dup, NC_000008.11:g.48606924_48606926dup, NC_000008.11:g.48606923_48606926dup, NC_000008.11:g.48606922_48606926dup, NC_000008.11:g.48606921_48606926dup, NC_000008.11:g.48606919_48606926dup, NC_000008.10:g.49519474_49519486del, NC_000008.10:g.49519476_49519486del, NC_000008.10:g.49519480_49519486del, NC_000008.10:g.49519481_49519486del, NC_000008.10:g.49519482_49519486del, NC_000008.10:g.49519483_49519486del, NC_000008.10:g.49519484_49519486del, NC_000008.10:g.49519485_49519486del, NC_000008.10:g.49519486del, NC_000008.10:g.49519486dup, NC_000008.10:g.49519485_49519486dup, NC_000008.10:g.49519484_49519486dup, NC_000008.10:g.49519483_49519486dup, NC_000008.10:g.49519482_49519486dup, NC_000008.10:g.49519481_49519486dup, NC_000008.10:g.49519479_49519486dup

Select item 14914792932.

rs1491479293 has merged into rs4006746 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:48652591 (GRCh38)
8:49565151 (GRCh37)
Canonical SPDI:: NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:48652580:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.4956/2482 (1000Genomes)
HGVS:: NC_000008.11:g.48652591_48652598del, NC_000008.11:g.48652592_48652598del, NC_000008.11:g.48652593_48652598del, NC_000008.11:g.48652594_48652598del, NC_000008.11:g.48652596_48652598del, NC_000008.11:g.48652597_48652598del, NC_000008.11:g.48652598del, NC_000008.11:g.48652598dup, NC_000008.11:g.48652597_48652598dup, NC_000008.11:g.48652596_48652598dup, NC_000008.11:g.48652595_48652598dup, NC_000008.11:g.48652594_48652598dup, NC_000008.11:g.48652593_48652598dup, NC_000008.11:g.48652592_48652598dup, NC_000008.11:g.48652587_48652598dup, NC_000008.10:g.49565151_49565158del, NC_000008.10:g.49565152_49565158del, NC_000008.10:g.49565153_49565158del, NC_000008.10:g.49565154_49565158del, NC_000008.10:g.49565156_49565158del, NC_000008.10:g.49565157_49565158del, NC_000008.10:g.49565158del, NC_000008.10:g.49565158dup, NC_000008.10:g.49565157_49565158dup, NC_000008.10:g.49565156_49565158dup, NC_000008.10:g.49565155_49565158dup, NC_000008.10:g.49565154_49565158dup, NC_000008.10:g.49565153_49565158dup, NC_000008.10:g.49565152_49565158dup, NC_000008.10:g.49565147_49565158dup

Select item 14914768743.

rs1491476874 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:48626927 (GRCh38)
8:49539487 (GRCh37)
Canonical SPDI:: NC_000008.11:48626926:AA:
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00007/8 (GnomAD)
HGVS:: NC_000008.11:g.48626927_48626928del, NC_000008.10:g.49539487_49539488del

Select item 14914267174.

rs1491426717 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATT,TATTTATT,TATTTATTTATT [Show Flanks]
Chromosome:: 8:48626935 (GRCh38)
8:49539496 (GRCh37)
Canonical SPDI:: NC_000008.11:48626935:ATT:ATTTATT,NC_000008.11:48626935:ATT:ATTTATTTATT,NC_000008.11:48626935:ATT:ATTTATTTATTTATT
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTTATTTATT=0./0 (ALFA)
ATTT=0.001319/156 (GnomAD)
HGVS:: NC_000008.11:g.48626938_48626939insTATT, NC_000008.11:g.48626938_48626939insTATTTATT, NC_000008.11:g.48626939TATT[3], NC_000008.10:g.49539498_49539499insTATT, NC_000008.10:g.49539498_49539499insTATTTATT, NC_000008.10:g.49539499TATT[3]

Select item 14914111895.

rs1491411189 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 8:48632706 (GRCh38)
8:49545267 (GRCh37)
Canonical SPDI:: NC_000008.11:48632706::CA
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
HGVS:: NC_000008.11:g.48632706_48632707insCA, NC_000008.10:g.49545266_49545267insCA

Select item 14913869896.

rs1491386989 has merged into rs34678716 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG [Show Flanks]
Chromosome:: 8:48626527 (GRCh38)
8:49539087 (GRCh37)
Canonical SPDI:: NC_000008.11:48626517:GTGTGTGTGTGTGTG:GTGTGTGTG,NC_000008.11:48626517:GTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000008.11:48626517:GTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000008.11:48626517:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000008.11:48626517:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000008.11:48626517:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTG=0./0 (ALFA)
GT=0.0528/885 (TOMMO)
GT=0.10982/550 (1000Genomes)
GT=0.14429/144 (GoNL)
GT=0.155/93 (NorthernSweden)
HGVS:: NC_000008.11:g.48626519TG[4], NC_000008.11:g.48626519TG[5], NC_000008.11:g.48626519TG[6], NC_000008.11:g.48626519TG[8], NC_000008.11:g.48626519TG[9], NC_000008.11:g.48626519TG[10], NC_000008.10:g.49539079TG[4], NC_000008.10:g.49539079TG[5], NC_000008.10:g.49539079TG[6], NC_000008.10:g.49539079TG[8], NC_000008.10:g.49539079TG[9], NC_000008.10:g.49539079TG[10]

Select item 14913736177.

rs1491373617 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:48626931 (GRCh38)
8:49539491 (GRCh37)
Canonical SPDI:: NC_000008.11:48626930:AA:
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.48626931_48626932del, NC_000008.10:g.49539491_49539492del

Select item 14913252808.

rs1491325280 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATT,TATTTATT,TATTTATTTATT [Show Flanks]
Chromosome:: 8:48626927 (GRCh38)
8:49539488 (GRCh37)
Canonical SPDI:: NC_000008.11:48626927:ATT:ATTTATT,NC_000008.11:48626927:ATT:ATTTATTTATT,NC_000008.11:48626927:ATT:ATTTATTTATTTATT
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATTTATTTATT=0./0 (ALFA)
HGVS:: NC_000008.11:g.48626930_48626931insTATT, NC_000008.11:g.48626930_48626931insTATTTATT, NC_000008.11:g.48626931TATT[3], NC_000008.10:g.49539490_49539491insTATT, NC_000008.10:g.49539490_49539491insTATTTATT, NC_000008.10:g.49539491TATT[3]

Select item 14913238329.

rs1491323832 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATT,TATTTATT [Show Flanks]
Chromosome:: 8:48626931 (GRCh38)
8:49539492 (GRCh37)
Canonical SPDI:: NC_000008.11:48626931:ATT:ATTTATT,NC_000008.11:48626931:ATT:ATTTATTTATT
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATTTATTTATT=0./0 (ALFA)
HGVS:: NC_000008.11:g.48626934_48626935insTATT, NC_000008.11:g.48626934_48626935insTATTTATT, NC_000008.10:g.49539494_49539495insTATT, NC_000008.10:g.49539494_49539495insTATTTATT

Select item 149129528310.

rs1491295283 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:48626939 (GRCh38)
8:49539499 (GRCh37)
Canonical SPDI:: NC_000008.11:48626938:AA:
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000777/99 (GnomAD)
-=0.011253/188 (TOMMO)
-=0.016667/30 (Korea1K)
HGVS:: NC_000008.11:g.48626939_48626940del, NC_000008.10:g.49539499_49539500del

Select item 149128460011.

rs1491284600 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:48626935 (GRCh38)
8:49539495 (GRCh37)
Canonical SPDI:: NC_000008.11:48626934:AA:
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/1 (GnomAD)
-=0.000556/1 (Korea1K)
-=0.003999/67 (TOMMO)
HGVS:: NC_000008.11:g.48626935_48626936del, NC_000008.10:g.49539495_49539496del

Select item 149124171212.

rs1491241712 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:48626943 (GRCh38)
8:49539503 (GRCh37)
Canonical SPDI:: NC_000008.11:48626942:AA:
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48626943_48626944del, NC_000008.10:g.49539503_49539504del

Select item 149123227013.

rs1491232270 has merged into rs1220246271 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA [Show Flanks]
Chromosome:: 8:48626542 (GRCh38)
8:49539102 (GRCh37)
Canonical SPDI:: NC_000008.11:48626531:GAGAGAGAGAGAGAGAGA:GAGAGAGAGA,NC_000008.11:48626531:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000008.11:48626531:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000008.11:48626531:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000008.11:48626531:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000008.11:48626531:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGA=0./0 (ALFA)
-=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.48626532GA[5], NC_000008.11:g.48626532GA[6], NC_000008.11:g.48626532GA[7], NC_000008.11:g.48626532GA[8], NC_000008.11:g.48626532GA[10], NC_000008.11:g.48626532GA[11], NC_000008.10:g.49539092GA[5], NC_000008.10:g.49539092GA[6], NC_000008.10:g.49539092GA[7], NC_000008.10:g.49539092GA[8], NC_000008.10:g.49539092GA[10], NC_000008.10:g.49539092GA[11]

Select item 149123096914.

rs1491230969 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 8:48632705 (GRCh38)
8:49545265 (GRCh37)
Canonical SPDI:: NC_000008.11:48632704:TC:
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.0003/11 (GnomAD)
-=0.00103/16 (TOMMO)
-=0.00286/5 (Korea1K)
-=0.21873/843 (ALSPAC)
HGVS:: NC_000008.11:g.48632705_48632706del, NC_000008.10:g.49545265_49545266del

Select item 149119452415.

rs1491194524 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:48606906 (GRCh38)
8:49519467 (GRCh37)
Canonical SPDI:: NC_000008.11:48606906::G
Gene:: LOC101929268 (Varview), LINC02847 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.48606906_48606907insG, NC_000008.10:g.49519466_49519467insG

Select item 149119034016.

rs1491190340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACAGA,CACACAGA,CACATA,CATA [Show Flanks]
Chromosome:: 8:48642488 (GRCh38)
8:49555049 (GRCh37)
Canonical SPDI:: NC_000008.11:48642488:A:ACACACACAGA,NC_000008.11:48642488:A:ACACACAGA,NC_000008.11:48642488:A:ACACATA,NC_000008.11:48642488:A:ACATA
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACATA=0./0 (ALFA)
HGVS:: NC_000008.11:g.48642489AC[4]AGA[1], NC_000008.11:g.48642489AC[3]AGA[1], NC_000008.11:g.48642489AC[2]ATA[1], NC_000008.11:g.48642489_48642490insCATA, NC_000008.10:g.49555049AC[4]AGA[1], NC_000008.10:g.49555049AC[3]AGA[1], NC_000008.10:g.49555049AC[2]ATA[1], NC_000008.10:g.49555049_49555050insCATA

Select item 149104679217.

rs1491046792 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 8:48644639 (GRCh38)
8:49557200 (GRCh37)
Canonical SPDI:: NC_000008.11:48644639::AC
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
AC=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48644639_48644640insAC, NC_000008.10:g.49557199_49557200insAC

Select item 149103593218.

rs1491035932 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:48606179 (GRCh38)
8:49518739 (GRCh37)
Canonical SPDI:: NC_000008.11:48606177:AGA:A
Gene:: LOC101929268 (Varview), LINC02847 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003456/41 (ALFA)
-=0.003279/21 (1000Genomes)
-=0.004462/625 (GnomAD)
HGVS:: NC_000008.11:g.48606179_48606180del, NC_000008.10:g.49518739_49518740del

Select item 149102240219.

rs1491022402 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:48626942 (GRCh38)
8:49539502 (GRCh37)
Canonical SPDI:: NC_000008.11:48626941:TA:
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000732/98 (GnomAD)
-=0.011253/189 (TOMMO)
-=0.016667/30 (Korea1K)
HGVS:: NC_000008.11:g.48626942_48626943del, NC_000008.10:g.49539502_49539503del

Select item 149101077420.

rs1491010774 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:48644640 (GRCh38)
8:49557200 (GRCh37)
Canonical SPDI:: NC_000008.11:48644638:ACA:A
Gene:: LOC101929268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000422/5 (ALFA)
-=0.000094/13 (GnomAD)
-=0.000142/2 (TOMMO)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000008.11:g.48644640_48644641del, NC_000008.10:g.49557200_49557201del

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