SNP Links for Gene (Select 104472718) - SNP

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Select item 14915844781.

rs1491584478 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 12:127945236 (GRCh38)
12:128429782 (GRCh37)
Canonical SPDI:: NC_000012.12:127945236:G:GTG
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
HGVS:: NC_000012.12:g.127945237_127945238insTG, NC_000012.11:g.128429782_128429783insTG

Select item 14915664192.

rs1491566419 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:127969084 (GRCh38)
12:128453629 (GRCh37)
Canonical SPDI:: NC_000012.12:127969083:AT:
Gene:: LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.005564/66 (ALFA)
-=0.005207/87 (TOMMO)
-=0.006816/873 (GnomAD)
-=0.047743/184 (ALSPAC)
-=0.05/2 (GENOME_DK)
-=0.056634/210 (TWINSUK)
HGVS:: NC_000012.12:g.127969084_127969085del, NC_000012.11:g.128453629_128453630del

Select item 14915417553.

rs1491541755 has merged into rs776892733 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGCGC>-,GC,GCGCGC,GCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 12:127945237 (GRCh38)
12:128429782 (GRCh37)
Canonical SPDI:: NC_000012.12:127945235:CGCGCGCGCGC:C,NC_000012.12:127945235:CGCGCGCGCGC:CGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGCGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGCGCGCGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000012.12:127945235:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CG=0.00164/3 (Korea1K)
HGVS:: NC_000012.12:g.127945237_127945246del, NC_000012.12:g.127945237GC[1], NC_000012.12:g.127945237GC[3], NC_000012.12:g.127945237GC[4], NC_000012.12:g.127945237GC[6], NC_000012.12:g.127945237GC[7], NC_000012.12:g.127945237GC[8], NC_000012.11:g.128429782_128429791del, NC_000012.11:g.128429782GC[1], NC_000012.11:g.128429782GC[3], NC_000012.11:g.128429782GC[4], NC_000012.11:g.128429782GC[6], NC_000012.11:g.128429782GC[7], NC_000012.11:g.128429782GC[8]

Select item 14915012954.

rs1491501295 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:127956606 (GRCh38)
12:128441151 (GRCh37)
Canonical SPDI:: NC_000012.12:127956605:CA:
Gene:: LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000012.12:g.127956606_127956607del, NC_000012.11:g.128441151_128441152del

Select item 14914698605.

rs1491469860 [Homo sapiens]

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

Select item 14914680666.

rs1491468066 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:127917889 (GRCh38)
12:128402434 (GRCh37)
Canonical SPDI:: NC_000012.12:127917888:TG:
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01332/217 (ALFA)
-=0.04833/29 (NorthernSweden)
-=0.21206/1062 (1000Genomes)
-=0.29887/19271 (GnomAD)
-=0.45945/7670 (TOMMO)
HGVS:: NC_000012.12:g.127917889_127917890del, NC_000012.11:g.128402434_128402435del

Select item 14914575867.

rs1491457586 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 12:127924422 (GRCh38)
12:128408968 (GRCh37)
Canonical SPDI:: NC_000012.12:127924422:C:CGC
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000012.12:g.127924423_127924424insGC, NC_000012.11:g.128408968_128408969insGC

Select item 14914449158.

rs1491444915 has merged into rs62762961 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:127923334 (GRCh38)
12:128407879 (GRCh37)
Canonical SPDI:: NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127923322:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.064497/323 (1000Genomes)
HGVS:: NC_000012.12:g.127923334_127923343del, NC_000012.12:g.127923336_127923343del, NC_000012.12:g.127923337_127923343del, NC_000012.12:g.127923338_127923343del, NC_000012.12:g.127923339_127923343del, NC_000012.12:g.127923340_127923343del, NC_000012.12:g.127923341_127923343del, NC_000012.12:g.127923342_127923343del, NC_000012.12:g.127923343del, NC_000012.12:g.127923343dup, NC_000012.12:g.127923342_127923343dup, NC_000012.12:g.127923341_127923343dup, NC_000012.12:g.127923340_127923343dup, NC_000012.12:g.127923338_127923343dup, NC_000012.12:g.127923336_127923343dup, NC_000012.12:g.127923325_127923343dup, NC_000012.12:g.127923343_127923344insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.128407879_128407888del, NC_000012.11:g.128407881_128407888del, NC_000012.11:g.128407882_128407888del, NC_000012.11:g.128407883_128407888del, NC_000012.11:g.128407884_128407888del, NC_000012.11:g.128407885_128407888del, NC_000012.11:g.128407886_128407888del, NC_000012.11:g.128407887_128407888del, NC_000012.11:g.128407888del, NC_000012.11:g.128407888dup, NC_000012.11:g.128407887_128407888dup, NC_000012.11:g.128407886_128407888dup, NC_000012.11:g.128407885_128407888dup, NC_000012.11:g.128407883_128407888dup, NC_000012.11:g.128407881_128407888dup, NC_000012.11:g.128407870_128407888dup, NC_000012.11:g.128407888_128407889insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914406899.

rs1491440689 has merged into rs369731448 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 12:127969099 (GRCh38)
12:128453644 (GRCh37)
Canonical SPDI:: NC_000012.12:127969097:ATA:A,NC_000012.12:127969097:ATA:ATATA
Gene:: LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.127969099_127969100del, NC_000012.12:g.127969099_127969100dup, NC_000012.11:g.128453644_128453645del, NC_000012.11:g.128453644_128453645dup

Select item 149141732010.

rs1491417320 has merged into rs869311852 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 12:127920754 (GRCh38)
12:128405299 (GRCh37)
Canonical SPDI:: NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:127920744:TATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.127920746AT[4], NC_000012.12:g.127920746AT[5], NC_000012.12:g.127920746AT[6], NC_000012.12:g.127920746AT[7], NC_000012.12:g.127920746AT[8], NC_000012.12:g.127920746AT[9], NC_000012.12:g.127920746AT[10], NC_000012.12:g.127920746AT[11], NC_000012.12:g.127920746AT[12], NC_000012.12:g.127920746AT[13], NC_000012.12:g.127920746AT[14], NC_000012.12:g.127920746AT[15], NC_000012.12:g.127920746AT[16], NC_000012.12:g.127920746AT[17], NC_000012.12:g.127920746AT[18], NC_000012.12:g.127920746AT[19], NC_000012.12:g.127920746AT[20], NC_000012.12:g.127920746AT[21], NC_000012.12:g.127920746AT[22], NC_000012.12:g.127920746AT[24], NC_000012.12:g.127920746AT[25], NC_000012.12:g.127920746AT[26], NC_000012.12:g.127920746AT[28], NC_000012.11:g.128405291AT[4], NC_000012.11:g.128405291AT[5], NC_000012.11:g.128405291AT[6], NC_000012.11:g.128405291AT[7], NC_000012.11:g.128405291AT[8], NC_000012.11:g.128405291AT[9], NC_000012.11:g.128405291AT[10], NC_000012.11:g.128405291AT[11], NC_000012.11:g.128405291AT[12], NC_000012.11:g.128405291AT[13], NC_000012.11:g.128405291AT[14], NC_000012.11:g.128405291AT[15], NC_000012.11:g.128405291AT[16], NC_000012.11:g.128405291AT[17], NC_000012.11:g.128405291AT[18], NC_000012.11:g.128405291AT[19], NC_000012.11:g.128405291AT[20], NC_000012.11:g.128405291AT[21], NC_000012.11:g.128405291AT[22], NC_000012.11:g.128405291AT[24], NC_000012.11:g.128405291AT[25], NC_000012.11:g.128405291AT[26], NC_000012.11:g.128405291AT[28]

Select item 149137826111.

rs1491378261 has merged into rs146768458 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT [Show Flanks]
Chromosome:: 12:127977230 (GRCh38)
12:128461775 (GRCh37)
Canonical SPDI:: NC_000012.12:127977218:TCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000012.12:127977218:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000012.12:127977218:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000012.12:127977218:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT
Gene:: LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCT=0./0 (ALFA)
-=0.00011/29 (TOPMED)
TC=0.025/1 (GENOME_DK)
TC=0.04509/45 (GoNL)
TC=0.053333/32 (NorthernSweden)
TC=0.158147/792 (1000Genomes)
TC=0.28972/62 (Vietnamese)
TC=0.49636/8319 (TOMMO)
HGVS:: NC_000012.12:g.127977220CT[5], NC_000012.12:g.127977220CT[6], NC_000012.12:g.127977220CT[8], NC_000012.12:g.127977220CT[9], NC_000012.11:g.128461765CT[5], NC_000012.11:g.128461765CT[6], NC_000012.11:g.128461765CT[8], NC_000012.11:g.128461765CT[9]

Select item 149137310812.

rs1491373108 [Homo sapiens]

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

Select item 149132142713.

rs1491321427 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:127949941 (GRCh38)
12:128434486 (GRCh37)
Canonical SPDI:: NC_000012.12:127949939:AAA:A
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.127949941_127949942del, NC_000012.11:g.128434486_128434487del

Select item 149129830114.

rs1491298301 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 12:127924444 (GRCh38)
12:128408989 (GRCh37)
Canonical SPDI:: NC_000012.12:127924442:CGC:C
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000052/7 (GnomAD)
-=0.003333/2 (NorthernSweden)
HGVS:: NC_000012.12:g.127924444_127924445del, NC_000012.11:g.128408989_128408990del

Select item 149127777315.

rs1491277773 has merged into rs56390370 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 12:127956617 (GRCh38)
12:128441162 (GRCh37)
Canonical SPDI:: NC_000012.12:127956606:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:127956606:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:127956606:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:127956606:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:127956606:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:127956606:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:127956606:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:127956606:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.25/10 (GENOME_DK)
AA=0.3134/178 (NorthernSweden)
AA=0.3618/1812 (1000Genomes)
HGVS:: NC_000012.12:g.127956617_127956621del, NC_000012.12:g.127956618_127956621del, NC_000012.12:g.127956619_127956621del, NC_000012.12:g.127956620_127956621del, NC_000012.12:g.127956621del, NC_000012.12:g.127956621dup, NC_000012.12:g.127956620_127956621dup, NC_000012.12:g.127956618_127956621dup, NC_000012.11:g.128441162_128441166del, NC_000012.11:g.128441163_128441166del, NC_000012.11:g.128441164_128441166del, NC_000012.11:g.128441165_128441166del, NC_000012.11:g.128441166del, NC_000012.11:g.128441166dup, NC_000012.11:g.128441165_128441166dup, NC_000012.11:g.128441163_128441166dup

Select item 149124126916.

rs1491241269 [Homo sapiens]

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

Select item 149122880917.

rs1491228809 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:127945278 (GRCh38)
12:128429823 (GRCh37)
Canonical SPDI:: NC_000012.12:127945277:CT:
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001727/28 (ALFA)
-=0.004997/32 (1000Genomes)
-=0.005796/797 (GnomAD)
-=0.015/9 (NorthernSweden)
-=0.015372/57 (TWINSUK)
-=0.016087/62 (ALSPAC)
HGVS:: NC_000012.12:g.127945278_127945279del, NC_000012.11:g.128429823_128429824del

Select item 149121134518.

rs1491211345 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:127923323 (GRCh38)
12:128407869 (GRCh37)
Canonical SPDI:: NC_000012.12:127923323::C
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.127923323_127923324insC, NC_000012.11:g.128407868_128407869insC

Select item 149119842819.

rs1491198428 has merged into rs1341016604 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGC>-,GC,GCGCGC,GCGCGCGC [Show Flanks]
Chromosome:: 12:127945231 (GRCh38)
12:128429776 (GRCh37)
Canonical SPDI:: NC_000012.12:127945228:GCGCGC:GC,NC_000012.12:127945228:GCGCGC:GCGC,NC_000012.12:127945228:GCGCGC:GCGCGCGC,NC_000012.12:127945228:GCGCGC:GCGCGCGCGC
Gene:: LINC00507 (Varview), LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
HGVS:: NC_000012.12:g.127945229GC[1], NC_000012.12:g.127945229GC[2], NC_000012.12:g.127945229GC[4], NC_000012.12:g.127945229GC[5], NC_000012.11:g.128429774GC[1], NC_000012.11:g.128429774GC[2], NC_000012.11:g.128429774GC[4], NC_000012.11:g.128429774GC[5]

Select item 149108425820.

rs1491084258 has merged into rs60697873 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:127901353 (GRCh38)
12:128385898 (GRCh37)
Canonical SPDI:: NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:127901341:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC00508 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000012.12:g.127901353_127901365del, NC_000012.12:g.127901354_127901365del, NC_000012.12:g.127901355_127901365del, NC_000012.12:g.127901356_127901365del, NC_000012.12:g.127901357_127901365del, NC_000012.12:g.127901358_127901365del, NC_000012.12:g.127901359_127901365del, NC_000012.12:g.127901360_127901365del, NC_000012.12:g.127901361_127901365del, NC_000012.12:g.127901362_127901365del, NC_000012.12:g.127901363_127901365del, NC_000012.12:g.127901364_127901365del, NC_000012.12:g.127901365del, NC_000012.12:g.127901365dup, NC_000012.12:g.127901364_127901365dup, NC_000012.12:g.127901363_127901365dup, NC_000012.12:g.127901362_127901365dup, NC_000012.12:g.127901361_127901365dup, NC_000012.12:g.127901360_127901365dup, NC_000012.12:g.127901359_127901365dup, NC_000012.12:g.127901358_127901365dup, NC_000012.12:g.127901357_127901365dup, NC_000012.12:g.127901356_127901365dup, NC_000012.12:g.127901355_127901365dup, NC_000012.12:g.127901354_127901365dup, NC_000012.12:g.127901353_127901365dup, NC_000012.12:g.127901352_127901365dup, NC_000012.12:g.127901351_127901365dup, NC_000012.12:g.127901350_127901365dup, NC_000012.12:g.127901346_127901365dup, NC_000012.12:g.127901365_127901366insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.127901365_127901366insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.127901365_127901366insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.127901365_127901366insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.127901365_127901366insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.127901365_127901366insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.127901365_127901366insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.128385898_128385910del, NC_000012.11:g.128385899_128385910del, NC_000012.11:g.128385900_128385910del, NC_000012.11:g.128385901_128385910del, NC_000012.11:g.128385902_128385910del, NC_000012.11:g.128385903_128385910del, NC_000012.11:g.128385904_128385910del, NC_000012.11:g.128385905_128385910del, NC_000012.11:g.128385906_128385910del, NC_000012.11:g.128385907_128385910del, NC_000012.11:g.128385908_128385910del, NC_000012.11:g.128385909_128385910del, NC_000012.11:g.128385910del, NC_000012.11:g.128385910dup, NC_000012.11:g.128385909_128385910dup, NC_000012.11:g.128385908_128385910dup, NC_000012.11:g.128385907_128385910dup, NC_000012.11:g.128385906_128385910dup, NC_000012.11:g.128385905_128385910dup, NC_000012.11:g.128385904_128385910dup, NC_000012.11:g.128385903_128385910dup, NC_000012.11:g.128385902_128385910dup, NC_000012.11:g.128385901_128385910dup, NC_000012.11:g.128385900_128385910dup, NC_000012.11:g.128385899_128385910dup, NC_000012.11:g.128385898_128385910dup, NC_000012.11:g.128385897_128385910dup, NC_000012.11:g.128385896_128385910dup, NC_000012.11:g.128385895_128385910dup, NC_000012.11:g.128385891_128385910dup, NC_000012.11:g.128385910_128385911insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.128385910_128385911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.128385910_128385911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.128385910_128385911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.128385910_128385911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.128385910_128385911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.128385910_128385911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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