SNP Links for Gene (Select 285456) - SNP

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Select item 14915692471.

rs1491569247 has merged into rs60609975 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 4:108591778 (GRCh38)
4:109512934 (GRCh37)
Canonical SPDI:: NC_000004.12:108591768:AGAGAGAGAGAGA:AGAGAGAGA,NC_000004.12:108591768:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000004.12:108591768:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000004.12:108591768:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGA=0./0 (ALFA)
AG=0.17508/104 (NorthernSweden)
HGVS:: NC_000004.12:g.108591770GA[4], NC_000004.12:g.108591770GA[5], NC_000004.12:g.108591770GA[7], NC_000004.12:g.108591770GA[8], NC_000004.11:g.109512926GA[4], NC_000004.11:g.109512926GA[5], NC_000004.11:g.109512926GA[7], NC_000004.11:g.109512926GA[8]

Select item 14915591252.

rs1491559125 has merged into rs5860927 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 4:108575260 (GRCh38)
4:109496416 (GRCh37)
Canonical SPDI:: NC_000004.12:108575246:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:108575246:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:108575246:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:108575246:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:108575246:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:108575246:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:108575246:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4924/2466 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000004.12:g.108575260_108575263del, NC_000004.12:g.108575261_108575263del, NC_000004.12:g.108575262_108575263del, NC_000004.12:g.108575263del, NC_000004.12:g.108575263dup, NC_000004.12:g.108575262_108575263dup, NC_000004.12:g.108575260_108575263dup, NC_000004.11:g.109496416_109496419del, NC_000004.11:g.109496417_109496419del, NC_000004.11:g.109496418_109496419del, NC_000004.11:g.109496419del, NC_000004.11:g.109496419dup, NC_000004.11:g.109496418_109496419dup, NC_000004.11:g.109496416_109496419dup

Select item 14915504903.

rs1491550490 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:108575246 (GRCh38)
4:109496402 (GRCh37)
Canonical SPDI:: NC_000004.12:108575245:TA:
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/4 (GnomAD)
HGVS:: NC_000004.12:g.108575246_108575247del, NC_000004.11:g.109496402_109496403del

Select item 14915231194.

rs1491523119 has merged into rs74676799 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:108612170 (GRCh38)
4:109533326 (GRCh37)
Canonical SPDI:: NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:108612158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4269/2138 (1000Genomes)
HGVS:: NC_000004.12:g.108612170_108612174del, NC_000004.12:g.108612171_108612174del, NC_000004.12:g.108612172_108612174del, NC_000004.12:g.108612173_108612174del, NC_000004.12:g.108612174del, NC_000004.12:g.108612174dup, NC_000004.12:g.108612173_108612174dup, NC_000004.12:g.108612172_108612174dup, NC_000004.12:g.108612171_108612174dup, NC_000004.12:g.108612174_108612175insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.108612174_108612175insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.109533326_109533330del, NC_000004.11:g.109533327_109533330del, NC_000004.11:g.109533328_109533330del, NC_000004.11:g.109533329_109533330del, NC_000004.11:g.109533330del, NC_000004.11:g.109533330dup, NC_000004.11:g.109533329_109533330dup, NC_000004.11:g.109533328_109533330dup, NC_000004.11:g.109533327_109533330dup, NC_000004.11:g.109533330_109533331insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.109533330_109533331insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053596.1:g.1519_1523del, NG_053596.1:g.1520_1523del, NG_053596.1:g.1521_1523del, NG_053596.1:g.1522_1523del, NG_053596.1:g.1523del, NG_053596.1:g.1523dup, NG_053596.1:g.1522_1523dup, NG_053596.1:g.1521_1523dup, NG_053596.1:g.1520_1523dup, NG_053596.1:g.1523_1524insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053596.1:g.1523_1524insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915185805.

rs1491518580 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTGTTTTTT,GTTTTTTTGTTTTTT [Show Flanks]
Chromosome:: 4:108597866 (GRCh38)
4:109519023 (GRCh37)
Canonical SPDI:: NC_000004.12:108597866:TTTTTT:TTTTTTGTTTTTGTTTTTT,NC_000004.12:108597866:TTTTTT:TTTTTTGTTTTTTTGTTTTTT
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTGTTTTTGTTTTTT=0.000084/1 (ALFA)
TTTTTTGTTTTTG=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.108597867_108597872T[6]GTTTTT[2]T[1], NC_000004.12:g.108597867_108597872TTTTTTGT[2]T[5], NC_000004.11:g.109519023_109519028T[6]GTTTTT[2]T[1], NC_000004.11:g.109519023_109519028TTTTTTGT[2]T[5]

Select item 14914458016.

rs1491445801 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:108577302 (GRCh38)
4:109498458 (GRCh37)
Canonical SPDI:: NC_000004.12:108577301:CA:
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.108577302_108577303del, NC_000004.11:g.109498458_109498459del

Select item 14914325507.

rs1491432550 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:108604532 (GRCh38)
4:109525688 (GRCh37)
Canonical SPDI:: NC_000004.12:108604531:AA:
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00023/1 (ALFA)
-=0.00176/29 (TOMMO)
HGVS:: NC_000004.12:g.108604532_108604533del, NC_000004.11:g.109525688_109525689del

Select item 14914250628.

rs1491425062 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:108612158 (GRCh38)
4:109533314 (GRCh37)
Canonical SPDI:: NC_000004.12:108612157:GA:
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.108612158_108612159del, NC_000004.11:g.109533314_109533315del, NG_053596.1:g.1507_1508del

Select item 14914045959.

rs1491404595 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:108562306 (GRCh38)
4:109483463 (GRCh37)
Canonical SPDI:: NC_000004.12:108562306:AAAAAAAA:AAAAAAAAA,NC_000004.12:108562306:AAAAAAAA:AAAAAAAAAA,NC_000004.12:108562306:AAAAAAAA:AAAAAAAAAAA,NC_000004.12:108562306:AAAAAAAA:AAAAAAAAAAAA,NC_000004.12:108562306:AAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:108562306:AAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:108562306:AAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:108562306:AAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:108562306:AAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0.00087/11 (ALFA)
HGVS:: NC_000004.12:g.108562314dup, NC_000004.12:g.108562313_108562314dup, NC_000004.12:g.108562312_108562314dup, NC_000004.12:g.108562311_108562314dup, NC_000004.12:g.108562310_108562314dup, NC_000004.12:g.108562309_108562314dup, NC_000004.12:g.108562308_108562314dup, NC_000004.12:g.108562307_108562314dup, NC_000004.12:g.108562314_108562315insAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.109483470dup, NC_000004.11:g.109483469_109483470dup, NC_000004.11:g.109483468_109483470dup, NC_000004.11:g.109483467_109483470dup, NC_000004.11:g.109483466_109483470dup, NC_000004.11:g.109483465_109483470dup, NC_000004.11:g.109483464_109483470dup, NC_000004.11:g.109483463_109483470dup, NC_000004.11:g.109483470_109483471insAAAAAAAAAAAAAAAAAAA

Select item 149137444110.

rs1491374441 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:108563275 (GRCh38)
4:109484431 (GRCh37)
Canonical SPDI:: NC_000004.12:108563274:CA:
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00118/14 (ALFA)
-=0.00004/1 (GnomAD)
-=0.00027/7 (TOMMO)
HGVS:: NC_000004.12:g.108563275_108563276del, NC_000004.11:g.109484431_109484432del

Select item 149136963611.

rs1491369636 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGG,GAGGGAGG [Show Flanks]
Chromosome:: 4:108604532 (GRCh38)
4:109525689 (GRCh37)
Canonical SPDI:: NC_000004.12:108604532:AGG:AGGGAGG,NC_000004.12:108604532:AGG:AGGGAGGGAGG
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGGGAGGGAGG=0./0 (ALFA)
HGVS:: NC_000004.12:g.108604535_108604536insGAGG, NC_000004.12:g.108604535_108604536insGAGGGAGG, NC_000004.11:g.109525691_109525692insGAGG, NC_000004.11:g.109525691_109525692insGAGGGAGG

Select item 149133557212.

rs1491335572 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:108604536 (GRCh38)
4:109525692 (GRCh37)
Canonical SPDI:: NC_000004.12:108604535:AA:
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
AA=0.40488/6738 (TOMMO)
HGVS:: NC_000004.12:g.108604536_108604537del, NC_000004.11:g.109525692_109525693del

Select item 149133099513.

rs1491330995 has merged into rs75017177 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: 4:108550623 (GRCh38)
4:109471779 (GRCh37)
Canonical SPDI:: NC_000004.12:108550611:ACACACACACACACACACA:ACACACACACA,NC_000004.12:108550611:ACACACACACACACACACA:ACACACACACACA,NC_000004.12:108550611:ACACACACACACACACACA:ACACACACACACACA,NC_000004.12:108550611:ACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:108550611:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:108550611:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:108550611:ACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000004.12:108550611:ACACACACACACACACACA:ACACACACACACACACACACACACACACA
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
AC=0.075/3 (GENOME_DK)
AC=0.11833/71 (NorthernSweden)
AC=0.26637/1334 (1000Genomes)
HGVS:: NC_000004.12:g.108550613CA[5], NC_000004.12:g.108550613CA[6], NC_000004.12:g.108550613CA[7], NC_000004.12:g.108550613CA[8], NC_000004.12:g.108550613CA[10], NC_000004.12:g.108550613CA[11], NC_000004.12:g.108550613CA[12], NC_000004.12:g.108550613CA[14], NC_000004.11:g.109471769CA[5], NC_000004.11:g.109471769CA[6], NC_000004.11:g.109471769CA[7], NC_000004.11:g.109471769CA[8], NC_000004.11:g.109471769CA[10], NC_000004.11:g.109471769CA[11], NC_000004.11:g.109471769CA[12], NC_000004.11:g.109471769CA[14]

Select item 149131155914.

rs1491311559 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:108562306 (GRCh38)
4:109483462 (GRCh37)
Canonical SPDI:: NC_000004.12:108562305:CA:
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000004.12:g.108562306_108562307del, NC_000004.11:g.109483462_109483463del

Select item 149129781715.

rs1491297817 has merged into rs200346138 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:108578370 (GRCh38)
4:109499526 (GRCh37)
Canonical SPDI:: NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:108578360:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.18448/107 (NorthernSweden)
-=0.34685/1737 (1000Genomes)
HGVS:: NC_000004.12:g.108578370_108578374del, NC_000004.12:g.108578371_108578374del, NC_000004.12:g.108578372_108578374del, NC_000004.12:g.108578373_108578374del, NC_000004.12:g.108578374del, NC_000004.12:g.108578374dup, NC_000004.12:g.108578373_108578374dup, NC_000004.12:g.108578371_108578374dup, NC_000004.12:g.108578368_108578374dup, NC_000004.12:g.108578367_108578374dup, NC_000004.11:g.109499526_109499530del, NC_000004.11:g.109499527_109499530del, NC_000004.11:g.109499528_109499530del, NC_000004.11:g.109499529_109499530del, NC_000004.11:g.109499530del, NC_000004.11:g.109499530dup, NC_000004.11:g.109499529_109499530dup, NC_000004.11:g.109499527_109499530dup, NC_000004.11:g.109499524_109499530dup, NC_000004.11:g.109499523_109499530dup

Select item 149127367816.

rs1491273678 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:108580834 (GRCh38)
4:109501990 (GRCh37)
Canonical SPDI:: NC_000004.12:108580832:TGT:T
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000075/10 (GnomAD)
HGVS:: NC_000004.12:g.108580834_108580835del, NC_000004.11:g.109501990_109501991del

Select item 149126631617.

rs1491266316 has merged into rs3056945 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATGTATATAACATATATACACATATATGTTATATATTTATATATATATATATAT [Show Flanks]
Chromosome:: 4:108575483 (GRCh38)
4:109496639 (GRCh37)
Canonical SPDI:: NC_000004.12:108575471:TATATATATATATAT:TATATATATAT,NC_000004.12:108575471:TATATATATATATAT:TATATATATATAT,NC_000004.12:108575471:TATATATATATATAT:TATATATATATATATAT,NC_000004.12:108575471:TATATATATATATAT:TATATATATATATATATAT,NC_000004.12:108575471:TATATATATATATAT:TATATATATATATATATATAT,NC_000004.12:108575471:TATATATATATATAT:TATATATATATATATATATATAT,NC_000004.12:108575471:TATATATATATATAT:TATATATATATATATATGTATATAACATATATACACATATATGTTATATATTTATATATATATATATAT
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATAT=0./0 (ALFA)
TA=0.13889/5 (GENOME_DK)
TA=0.18333/110 (NorthernSweden)
TA=0.30831/1544 (1000Genomes)
HGVS:: NC_000004.12:g.108575473AT[5], NC_000004.12:g.108575473AT[6], NC_000004.12:g.108575473AT[8], NC_000004.12:g.108575473AT[9], NC_000004.12:g.108575473AT[10], NC_000004.12:g.108575473AT[11], NC_000004.12:g.108575472_108575486TA[8]TGTATATAACATATATACACATATATGTTATATATTTATATATATATATATAT[1], NC_000004.11:g.109496629AT[5], NC_000004.11:g.109496629AT[6], NC_000004.11:g.109496629AT[8], NC_000004.11:g.109496629AT[9], NC_000004.11:g.109496629AT[10], NC_000004.11:g.109496629AT[11], NC_000004.11:g.109496628_109496642TA[8]TGTATATAACATATATACACATATATGTTATATATTTATATATATATATATAT[1]

Select item 149123772918.

rs1491237729 has merged into rs57893575 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 4:108576272 (GRCh38)
4:109497428 (GRCh37)
Canonical SPDI:: NC_000004.12:108576261:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:108576261:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:108576261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:108576261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:108576261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:108576261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:108576261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.108576272_108576276del, NC_000004.12:g.108576273_108576276del, NC_000004.12:g.108576275_108576276del, NC_000004.12:g.108576276del, NC_000004.12:g.108576276dup, NC_000004.12:g.108576275_108576276dup, NC_000004.12:g.108576274_108576276dup, NC_000004.11:g.109497428_109497432del, NC_000004.11:g.109497429_109497432del, NC_000004.11:g.109497431_109497432del, NC_000004.11:g.109497432del, NC_000004.11:g.109497432dup, NC_000004.11:g.109497431_109497432dup, NC_000004.11:g.109497430_109497432dup

Select item 149121976519.

rs1491219765 has merged into rs1480644873 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 4:108572881 (GRCh38)
4:109494037 (GRCh37)
Canonical SPDI:: NC_000004.12:108572878:TTTT:TT,NC_000004.12:108572878:TTTT:TTTTTT,NC_000004.12:108572878:TTTT:TTTTTTTT,NC_000004.12:108572878:TTTT:TTTTTTTTTT
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTTT=0.000004/1 (TOPMED)
-=0.004685/30 (1000Genomes)
-=0.113538/421 (TWINSUK)
HGVS:: NC_000004.12:g.108572881_108572882del, NC_000004.12:g.108572881_108572882dup, NC_000004.12:g.108572879_108572882dup, NC_000004.12:g.108572882_108572883insTTTTTT, NC_000004.11:g.109494037_109494038del, NC_000004.11:g.109494037_109494038dup, NC_000004.11:g.109494035_109494038dup, NC_000004.11:g.109494038_109494039insTTTTTT

Select item 149120451120.

rs1491204511 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:108580833 (GRCh38)
4:109501990 (GRCh37)
Canonical SPDI:: NC_000004.12:108580833:G:GG
Gene:: RPL34-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000083/11 (GnomAD)
HGVS:: NC_000004.12:g.108580834dup, NC_000004.11:g.109501990dup

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