SNP Links for Gene (Select 101730217) - SNP

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Select item 14915719471.

rs1491571947 has merged into rs56978503 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTATTATT>-,ATT,ATTATT,ATTATTATTATT,ATTATTATTATTATT,ATTATTATTATTATTATT,ATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATT [Show Flanks]
Chromosome:: 22:24279580 (GRCh38)
22:24675548 (GRCh37)
Canonical SPDI:: NC_000022.11:24279570:ATTATTATTATTATTATT:ATTATTATT,NC_000022.11:24279570:ATTATTATTATTATTATT:ATTATTATTATT,NC_000022.11:24279570:ATTATTATTATTATTATT:ATTATTATTATTATT,NC_000022.11:24279570:ATTATTATTATTATTATT:ATTATTATTATTATTATTATT,NC_000022.11:24279570:ATTATTATTATTATTATT:ATTATTATTATTATTATTATTATT,NC_000022.11:24279570:ATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATT,NC_000022.11:24279570:ATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATT,NC_000022.11:24279570:ATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATT,NC_000022.11:24279570:ATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATT
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATTATTATTATT=0./0 (ALFA)
HGVS:: NC_000022.11:g.24279571ATT[3], NC_000022.11:g.24279571ATT[4], NC_000022.11:g.24279571ATT[5], NC_000022.11:g.24279571ATT[7], NC_000022.11:g.24279571ATT[8], NC_000022.11:g.24279571ATT[9], NC_000022.11:g.24279571ATT[10], NC_000022.11:g.24279571ATT[11], NC_000022.11:g.24279571ATT[12], NC_000022.10:g.24675539ATT[3], NC_000022.10:g.24675539ATT[4], NC_000022.10:g.24675539ATT[5], NC_000022.10:g.24675539ATT[7], NC_000022.10:g.24675539ATT[8], NC_000022.10:g.24675539ATT[9], NC_000022.10:g.24675539ATT[10], NC_000022.10:g.24675539ATT[11], NC_000022.10:g.24675539ATT[12], NG_031915.2:g.13750ATT[3], NG_031915.2:g.13750ATT[4], NG_031915.2:g.13750ATT[5], NG_031915.2:g.13750ATT[7], NG_031915.2:g.13750ATT[8], NG_031915.2:g.13750ATT[9], NG_031915.2:g.13750ATT[10], NG_031915.2:g.13750ATT[11], NG_031915.2:g.13750ATT[12]

Select item 14915680852.

rs1491568085 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 22:24270290 (GRCh38)
22:24666258 (GRCh37)
Canonical SPDI:: NC_000022.11:24270289:CG:
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00009/7 (GnomAD)
-=0.00333/92 (TOMMO)
HGVS:: NC_000022.11:g.24270290_24270291del, NC_000022.10:g.24666258_24666259del, NG_031915.2:g.4469_4470del

Select item 14915677133.

rs1491567713 has merged into rs398036656 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCC>-,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 22:24425345 (GRCh38)
22:24821313 (GRCh37)
Canonical SPDI:: NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:24425337:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: ADORA2A (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000022.11:g.24425345_24425351del, NC_000022.11:g.24425347_24425351del, NC_000022.11:g.24425348_24425351del, NC_000022.11:g.24425349_24425351del, NC_000022.11:g.24425350_24425351del, NC_000022.11:g.24425351del, NC_000022.11:g.24425351dup, NC_000022.11:g.24425350_24425351dup, NC_000022.11:g.24425349_24425351dup, NC_000022.11:g.24425348_24425351dup, NC_000022.11:g.24425347_24425351dup, NC_000022.11:g.24425346_24425351dup, NC_000022.11:g.24425345_24425351dup, NC_000022.11:g.24425344_24425351dup, NC_000022.11:g.24425342_24425351dup, NC_000022.11:g.24425341_24425351dup, NC_000022.11:g.24425340_24425351dup, NC_000022.11:g.24425339_24425351dup, NC_000022.11:g.24425338_24425351dup, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.24425351_24425352insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821313_24821319del, NC_000022.10:g.24821315_24821319del, NC_000022.10:g.24821316_24821319del, NC_000022.10:g.24821317_24821319del, NC_000022.10:g.24821318_24821319del, NC_000022.10:g.24821319del, NC_000022.10:g.24821319dup, NC_000022.10:g.24821318_24821319dup, NC_000022.10:g.24821317_24821319dup, NC_000022.10:g.24821316_24821319dup, NC_000022.10:g.24821315_24821319dup, NC_000022.10:g.24821314_24821319dup, NC_000022.10:g.24821313_24821319dup, NC_000022.10:g.24821312_24821319dup, NC_000022.10:g.24821310_24821319dup, NC_000022.10:g.24821309_24821319dup, NC_000022.10:g.24821308_24821319dup, NC_000022.10:g.24821307_24821319dup, NC_000022.10:g.24821306_24821319dup, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.24821319_24821320insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6749_6755del, NG_052804.1:g.6751_6755del, NG_052804.1:g.6752_6755del, NG_052804.1:g.6753_6755del, NG_052804.1:g.6754_6755del, NG_052804.1:g.6755del, NG_052804.1:g.6755dup, NG_052804.1:g.6754_6755dup, NG_052804.1:g.6753_6755dup, NG_052804.1:g.6752_6755dup, NG_052804.1:g.6751_6755dup, NG_052804.1:g.6750_6755dup, NG_052804.1:g.6749_6755dup, NG_052804.1:g.6748_6755dup, NG_052804.1:g.6746_6755dup, NG_052804.1:g.6745_6755dup, NG_052804.1:g.6744_6755dup, NG_052804.1:g.6743_6755dup, NG_052804.1:g.6742_6755dup, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_052804.1:g.6755_6756insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Select item 14915547114.

rs1491554711 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTA [Show Flanks]
Chromosome:: 22:24392641 (GRCh38)
22:24788610 (GRCh37)
Canonical SPDI:: NC_000022.11:24392641::CTA
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTA=0./0 (ALFA)
CTA=0.000214/30 (GnomAD)
HGVS:: NC_000022.11:g.24392641_24392642insCTA, NC_000022.10:g.24788609_24788610insCTA, NG_031915.2:g.126820_126821insCTA

Select item 14915399515.

rs1491539951 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 22:24270277 (GRCh38)
22:24666246 (GRCh37)
Canonical SPDI:: NC_000022.11:24270277:C:CGC
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000022.11:g.24270278_24270279insGC, NC_000022.10:g.24666246_24666247insGC, NG_009906.5:g.11_12insCG, NG_031915.2:g.4457_4458insGC

Select item 14915249376.

rs1491524937 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:24270327 (GRCh38)
22:24666295 (GRCh37)
Canonical SPDI:: NC_000022.11:24270326:GT:
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01096/130 (ALFA)
-=0.00011/3 (TOMMO)
-=0.00558/371 (GnomAD)
HGVS:: NC_000022.11:g.24270327_24270328del, NC_000022.10:g.24666295_24666296del, NG_031915.2:g.4506_4507del

Select item 14915039717.

rs1491503971 has merged into rs1171340616 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TATA,TATATA,TATATATATA [Show Flanks]
Chromosome:: 22:24270332 (GRCh38)
22:24666300 (GRCh37)
Canonical SPDI:: NC_000022.11:24270327:TATATATATATA:TATA,NC_000022.11:24270327:TATATATATATA:TATATATA,NC_000022.11:24270327:TATATATATATA:TATATATATA,NC_000022.11:24270327:TATATATATATA:TATATATATATATA
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
HGVS:: NC_000022.11:g.24270328TA[2], NC_000022.11:g.24270328TA[4], NC_000022.11:g.24270328TA[5], NC_000022.11:g.24270328TA[7], NC_000022.10:g.24666296TA[2], NC_000022.10:g.24666296TA[4], NC_000022.10:g.24666296TA[5], NC_000022.10:g.24666296TA[7], NG_031915.2:g.4507TA[2], NG_031915.2:g.4507TA[4], NG_031915.2:g.4507TA[5], NG_031915.2:g.4507TA[7]

Select item 14915024968.

rs1491502496 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:24339785 (GRCh38)
22:24735753 (GRCh37)
Canonical SPDI:: NC_000022.11:24339784:CT:
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24339785_24339786del, NC_000022.10:g.24735753_24735754del, NG_031915.2:g.73964_73965del

Select item 14915018039.

rs1491501803 has merged into rs71189243 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATTTATT>-,TATT,TATTTATTTATT,TATTTATTTATTTATT,TATTTATTTATTTATTTATT,TATTTATTTATTTATTTATTTATT,TATTTATTTATTTATTTATTTATTTATT,TATTTATTTATTTATTTATTTATTTATTTATT [Show Flanks]
Chromosome:: 22:24316293 (GRCh38)
22:24712261 (GRCh37)
Canonical SPDI:: NC_000022.11:24316274:TTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATT,NC_000022.11:24316274:TTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATT,NC_000022.11:24316274:TTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:24316274:TTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:24316274:TTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:24316274:TTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:24316274:TTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000022.11:24316274:TTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTATTTATTTATTTATT=0./0 (ALFA)
-=0.118/346 (1000Genomes)
TTTA=0.4/16 (GENOME_DK)
TTTA=0.4559/455 (GoNL)
TTTA=0.4924/1826 (TWINSUK)
TTTA=0.4943/1905 (ALSPAC)
HGVS:: NC_000022.11:g.24316277TATT[4], NC_000022.11:g.24316277TATT[5], NC_000022.11:g.24316277TATT[7], NC_000022.11:g.24316277TATT[8], NC_000022.11:g.24316277TATT[9], NC_000022.11:g.24316277TATT[10], NC_000022.11:g.24316277TATT[11], NC_000022.11:g.24316277TATT[12], NC_000022.10:g.24712245TATT[4], NC_000022.10:g.24712245TATT[5], NC_000022.10:g.24712245TATT[7], NC_000022.10:g.24712245TATT[8], NC_000022.10:g.24712245TATT[9], NC_000022.10:g.24712245TATT[10], NC_000022.10:g.24712245TATT[11], NC_000022.10:g.24712245TATT[12], NG_031915.2:g.50456TATT[4], NG_031915.2:g.50456TATT[5], NG_031915.2:g.50456TATT[7], NG_031915.2:g.50456TATT[8], NG_031915.2:g.50456TATT[9], NG_031915.2:g.50456TATT[10], NG_031915.2:g.50456TATT[11], NG_031915.2:g.50456TATT[12]

Select item 149149875710.

rs1491498757 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 22:24270291 (GRCh38)
22:24666260 (GRCh37)
Canonical SPDI:: NC_000022.11:24270291::CA
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
CA=0.00001/1 (GnomAD)
HGVS:: NC_000022.11:g.24270291_24270292insCA, NC_000022.10:g.24666259_24666260insCA, NG_031915.2:g.4470_4471insCA

Select item 149149360711.

rs1491493607 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,ACAC,ACACAC,ACACATATATATATAC,ACATACACAC,ACATATATATATAC,ACATATATATATACACATATATATACACATATATATAC,ACATATATATATACATATATATACAC,ACATATATATATACATATATATATAC,ATAC,ATACACAC,ATACACACAC,ATATAC,ATATACATACACAC [Show Flanks]
Chromosome:: 22:24270254 (GRCh38)
22:24666223 (GRCh37)
Canonical SPDI:: NC_000022.11:24270254::AC,NC_000022.11:24270254::ACAC,NC_000022.11:24270254::ACACAC,NC_000022.11:24270254::ACACATATATATATAC,NC_000022.11:24270254::ACATACACAC,NC_000022.11:24270254::ACATATATATATAC,NC_000022.11:24270254::ACATATATATATACACATATATATACACATATATATAC,NC_000022.11:24270254::ACATATATATATACATATATATACAC,NC_000022.11:24270254::ACATATATATATACATATATATATAC,NC_000022.11:24270254::ATAC,NC_000022.11:24270254::ATACACAC,NC_000022.11:24270254::ATACACACAC,NC_000022.11:24270254::ATATAC,NC_000022.11:24270254::ATATACATACACAC
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0./0 (ALFA)
ACATACACAC=0.00695/12 (Korea1K)
HGVS:: NC_000022.11:g.24270254_24270255insAC, NC_000022.11:g.24270254_24270255insACAC, NC_000022.11:g.24270254_24270255insACACAC, NC_000022.11:g.24270254_24270255insACACATATATATATAC, NC_000022.11:g.24270254_24270255insACATACACAC, NC_000022.11:g.24270254_24270255insACATATATATATAC, NC_000022.11:g.24270254_24270255insACATATATATATACACATATATATACACATATATATAC, NC_000022.11:g.24270254_24270255insACATATATATATACATATATATACAC, NC_000022.11:g.24270254_24270255insACATATATATATACATATATATATAC, NC_000022.11:g.24270254_24270255insATAC, NC_000022.11:g.24270254_24270255insATACACAC, NC_000022.11:g.24270254_24270255insATACACACAC, NC_000022.11:g.24270254_24270255insATATAC, NC_000022.11:g.24270254_24270255insATATACATACACAC, NC_000022.10:g.24666222_24666223insAC, NC_000022.10:g.24666222_24666223insACAC, NC_000022.10:g.24666222_24666223insACACAC, NC_000022.10:g.24666222_24666223insACACATATATATATAC, NC_000022.10:g.24666222_24666223insACATACACAC, NC_000022.10:g.24666222_24666223insACATATATATATAC, NC_000022.10:g.24666222_24666223insACATATATATATACACATATATATACACATATATATAC, NC_000022.10:g.24666222_24666223insACATATATATATACATATATATACAC, NC_000022.10:g.24666222_24666223insACATATATATATACATATATATATAC, NC_000022.10:g.24666222_24666223insATAC, NC_000022.10:g.24666222_24666223insATACACAC, NC_000022.10:g.24666222_24666223insATACACACAC, NC_000022.10:g.24666222_24666223insATATAC, NC_000022.10:g.24666222_24666223insATATACATACACAC, NG_009906.5:g.34_35insGT, NG_009906.5:g.34_35insGTGT, NG_009906.5:g.34_35insGTGTGT, NG_009906.5:g.34_35insGTATATATATATGTGT, NG_009906.5:g.34_35insGTGTGTATGT, NG_009906.5:g.34_35insGTATATATATATGT, NG_009906.5:g.34_35insGTATATATATGTGTATATATATGTGTATATATATATGT, NG_009906.5:g.34_35insGTGTATATATATGTATATATATATGT, NG_009906.5:g.34_35insGTATATATATATGTATATATATATGT, NG_009906.5:g.34_35insGTAT, NG_009906.5:g.34_35insGTGTGTAT, NG_009906.5:g.34_35insGTGTGTGTAT, NG_009906.5:g.34_35insGTATAT, NG_009906.5:g.34_35insGTGTGTATGTATAT, NG_031915.2:g.4433_4434insAC, NG_031915.2:g.4433_4434insACAC, NG_031915.2:g.4433_4434insACACAC, NG_031915.2:g.4433_4434insACACATATATATATAC, NG_031915.2:g.4433_4434insACATACACAC, NG_031915.2:g.4433_4434insACATATATATATAC, NG_031915.2:g.4433_4434insACATATATATATACACATATATATACACATATATATAC, NG_031915.2:g.4433_4434insACATATATATATACATATATATACAC, NG_031915.2:g.4433_4434insACATATATATATACATATATATATAC, NG_031915.2:g.4433_4434insATAC, NG_031915.2:g.4433_4434insATACACAC, NG_031915.2:g.4433_4434insATACACACAC, NG_031915.2:g.4433_4434insATATAC, NG_031915.2:g.4433_4434insATATACATACACAC

Select item 149149343212.

rs1491493432 has merged into rs35725042 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:24344599 (GRCh38)
22:24740567 (GRCh37)
Canonical SPDI:: NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24344592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.24344599_24344610del, NC_000022.11:g.24344600_24344610del, NC_000022.11:g.24344602_24344610del, NC_000022.11:g.24344604_24344610del, NC_000022.11:g.24344605_24344610del, NC_000022.11:g.24344606_24344610del, NC_000022.11:g.24344607_24344610del, NC_000022.11:g.24344608_24344610del, NC_000022.11:g.24344609_24344610del, NC_000022.11:g.24344610del, NC_000022.11:g.24344610dup, NC_000022.11:g.24344609_24344610dup, NC_000022.11:g.24344608_24344610dup, NC_000022.11:g.24344607_24344610dup, NC_000022.11:g.24344606_24344610dup, NC_000022.11:g.24344605_24344610dup, NC_000022.11:g.24344604_24344610dup, NC_000022.11:g.24344603_24344610dup, NC_000022.11:g.24344602_24344610dup, NC_000022.11:g.24344594_24344610dup, NC_000022.10:g.24740567_24740578del, NC_000022.10:g.24740568_24740578del, NC_000022.10:g.24740570_24740578del, NC_000022.10:g.24740572_24740578del, NC_000022.10:g.24740573_24740578del, NC_000022.10:g.24740574_24740578del, NC_000022.10:g.24740575_24740578del, NC_000022.10:g.24740576_24740578del, NC_000022.10:g.24740577_24740578del, NC_000022.10:g.24740578del, NC_000022.10:g.24740578dup, NC_000022.10:g.24740577_24740578dup, NC_000022.10:g.24740576_24740578dup, NC_000022.10:g.24740575_24740578dup, NC_000022.10:g.24740574_24740578dup, NC_000022.10:g.24740573_24740578dup, NC_000022.10:g.24740572_24740578dup, NC_000022.10:g.24740571_24740578dup, NC_000022.10:g.24740570_24740578dup, NC_000022.10:g.24740562_24740578dup, NG_031915.2:g.78778_78789del, NG_031915.2:g.78779_78789del, NG_031915.2:g.78781_78789del, NG_031915.2:g.78783_78789del, NG_031915.2:g.78784_78789del, NG_031915.2:g.78785_78789del, NG_031915.2:g.78786_78789del, NG_031915.2:g.78787_78789del, NG_031915.2:g.78788_78789del, NG_031915.2:g.78789del, NG_031915.2:g.78789dup, NG_031915.2:g.78788_78789dup, NG_031915.2:g.78787_78789dup, NG_031915.2:g.78786_78789dup, NG_031915.2:g.78785_78789dup, NG_031915.2:g.78784_78789dup, NG_031915.2:g.78783_78789dup, NG_031915.2:g.78782_78789dup, NG_031915.2:g.78781_78789dup, NG_031915.2:g.78773_78789dup

Select item 149147107913.

rs1491471079 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:24270341 (GRCh38)
22:24666309 (GRCh37)
Canonical SPDI:: NC_000022.11:24270340:GT:
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00007/5 (GnomAD)
HGVS:: NC_000022.11:g.24270341_24270342del, NC_000022.10:g.24666309_24666310del, NG_031915.2:g.4520_4521del

Select item 149146081514.

rs1491460815 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 22:24270255 (GRCh38)
22:24666223 (GRCh37)
Canonical SPDI:: NC_000022.11:24270253:TGT:T,NC_000022.11:24270253:TGT:TGTGT
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00049/8 (ALFA)
-=0.000112/13 (GnomAD)
-=0.001849/52 (TOMMO)
HGVS:: NC_000022.11:g.24270255_24270256del, NC_000022.11:g.24270255_24270256dup, NC_000022.10:g.24666223_24666224del, NC_000022.10:g.24666223_24666224dup, NG_009906.5:g.34_35del, NG_009906.5:g.34_35dup, NG_031915.2:g.4434_4435del, NG_031915.2:g.4434_4435dup

Select item 149144073715.

rs1491440737 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:24270217 (GRCh38)
22:24666186 (GRCh37)
Canonical SPDI:: NC_000022.11:24270217::A
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000038/4 (GnomAD)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000022.11:g.24270217_24270218insA, NC_000022.10:g.24666185_24666186insA, NG_009906.5:g.71_72insT, NG_031915.2:g.4396_4397insA

Select item 149141679016.

rs1491416790 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:24311804 (GRCh38)
22:24707772 (GRCh37)
Canonical SPDI:: NC_000022.11:24311803:CA:
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.24311804_24311805del, NC_000022.10:g.24707772_24707773del, NG_031915.2:g.45983_45984del

Select item 149137440817.

rs1491374408 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:24344592 (GRCh38)
22:24740560 (GRCh37)
Canonical SPDI:: NC_000022.11:24344591:CA:
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00093/11 (ALFA)
-=0.00074/48 (GnomAD)
HGVS:: NC_000022.11:g.24344592_24344593del, NC_000022.10:g.24740560_24740561del, NG_031915.2:g.78771_78772del

Select item 149135828018.

rs1491358280 has merged into rs35947804 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:24342683 (GRCh38)
22:24738651 (GRCh37)
Canonical SPDI:: NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:24342672:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.1142/440 (ALSPAC)
HGVS:: NC_000022.11:g.24342683_24342690del, NC_000022.11:g.24342684_24342690del, NC_000022.11:g.24342685_24342690del, NC_000022.11:g.24342686_24342690del, NC_000022.11:g.24342687_24342690del, NC_000022.11:g.24342688_24342690del, NC_000022.11:g.24342689_24342690del, NC_000022.11:g.24342690del, NC_000022.11:g.24342690dup, NC_000022.11:g.24342689_24342690dup, NC_000022.11:g.24342688_24342690dup, NC_000022.11:g.24342687_24342690dup, NC_000022.11:g.24342686_24342690dup, NC_000022.11:g.24342685_24342690dup, NC_000022.11:g.24342684_24342690dup, NC_000022.11:g.24342682_24342690dup, NC_000022.10:g.24738651_24738658del, NC_000022.10:g.24738652_24738658del, NC_000022.10:g.24738653_24738658del, NC_000022.10:g.24738654_24738658del, NC_000022.10:g.24738655_24738658del, NC_000022.10:g.24738656_24738658del, NC_000022.10:g.24738657_24738658del, NC_000022.10:g.24738658del, NC_000022.10:g.24738658dup, NC_000022.10:g.24738657_24738658dup, NC_000022.10:g.24738656_24738658dup, NC_000022.10:g.24738655_24738658dup, NC_000022.10:g.24738654_24738658dup, NC_000022.10:g.24738653_24738658dup, NC_000022.10:g.24738652_24738658dup, NC_000022.10:g.24738650_24738658dup, NG_031915.2:g.76862_76869del, NG_031915.2:g.76863_76869del, NG_031915.2:g.76864_76869del, NG_031915.2:g.76865_76869del, NG_031915.2:g.76866_76869del, NG_031915.2:g.76867_76869del, NG_031915.2:g.76868_76869del, NG_031915.2:g.76869del, NG_031915.2:g.76869dup, NG_031915.2:g.76868_76869dup, NG_031915.2:g.76867_76869dup, NG_031915.2:g.76866_76869dup, NG_031915.2:g.76865_76869dup, NG_031915.2:g.76864_76869dup, NG_031915.2:g.76863_76869dup, NG_031915.2:g.76861_76869dup

Select item 149135723819.

rs1491357238 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTTTCTTTT,CTTTT,CTTTTCTTTT [Show Flanks]
Chromosome:: 22:24390873 (GRCh38)
22:24786842 (GRCh37)
Canonical SPDI:: NC_000022.11:24390873:TTTT:TTTTATTTTCTTTT,NC_000022.11:24390873:TTTT:TTTTCTTTT,NC_000022.11:24390873:TTTT:TTTTCTTTTCTTTT
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTCTTTTCTTTT=0./0 (ALFA)
TTTTC=0.00004/2 (GnomAD)
TTTTATTTTC=0.00012/2 (TOMMO)
HGVS:: NC_000022.11:g.24390874_24390877T[4]ATTTTCTTTT[1], NC_000022.11:g.24390874_24390877T[4]CTTTT[1], NC_000022.11:g.24390877_24390878insCTTTTCTTTT, NC_000022.10:g.24786842_24786845T[4]ATTTTCTTTT[1], NC_000022.10:g.24786842_24786845T[4]CTTTT[1], NC_000022.10:g.24786845_24786846insCTTTTCTTTT, NG_031915.2:g.125053_125056T[4]ATTTTCTTTT[1], NG_031915.2:g.125053_125056T[4]CTTTT[1], NG_031915.2:g.125056_125057insCTTTTCTTTT

Select item 149134435520.

rs1491344355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAA [Show Flanks]
Chromosome:: 22:24327278 (GRCh38)
22:24723247 (GRCh37)
Canonical SPDI:: NC_000022.11:24327278:AAAA:AAAACAAAA
Gene:: SPECC1L (Varview), SPECC1L-ADORA2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAACAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.24327279_24327282A[4]CAAAA[1], NC_000022.10:g.24723247_24723250A[4]CAAAA[1], NG_031915.2:g.61458_61461A[4]CAAAA[1]

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