SNP Links for Gene (Select 100505996) - SNP

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Select item 14915884981.

rs1491588498 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 13:112006920 (GRCh38)
13:112661234 (GRCh37)
Canonical SPDI:: NC_000013.11:112006918:AAA:A,NC_000013.11:112006918:AAA:AA
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
G=0.06558/327 (1000Genomes)
HGVS:: NC_000013.11:g.112006920_112006921del, NC_000013.11:g.112006921del, NC_000013.10:g.112661234_112661235del, NC_000013.10:g.112661235del

Select item 14915810592.

rs1491581059 has merged into rs1216970866 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 13:112081503 (GRCh38)
13:112735817 (GRCh37)
Canonical SPDI:: NC_000013.11:112081502:TTT:TT,NC_000013.11:112081502:TTT:TTTT
Gene:: SOX1-OT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000036/1 (TOMMO)
-=0.000349/42 (GnomAD)
HGVS:: NC_000013.11:g.112081505del, NC_000013.11:g.112081505dup, NC_000013.10:g.112735819del, NC_000013.10:g.112735819dup

Select item 14915649313.

rs1491564931 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:111971423 (GRCh38)
13:112625738 (GRCh37)
Canonical SPDI:: NC_000013.11:111971423::C
Gene:: SOX1-OT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.111971423_111971424insC, NC_000013.10:g.112625737_112625738insC

Select item 14915456464.

rs1491545646 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:112046499 (GRCh38)
13:112700814 (GRCh37)
Canonical SPDI:: NC_000013.11:112046499:A:AA
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.112046500dup, NC_000013.10:g.112700814dup

Select item 14915428215.

rs1491542821 has merged into rs527834140 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:111971432 (GRCh38)
13:112625746 (GRCh37)
Canonical SPDI:: NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SOX1-OT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.02911/17 (NorthernSweden)
HGVS:: NC_000013.11:g.111971432_111971448del, NC_000013.11:g.111971434_111971448del, NC_000013.11:g.111971435_111971448del, NC_000013.11:g.111971436_111971448del, NC_000013.11:g.111971437_111971448del, NC_000013.11:g.111971438_111971448del, NC_000013.11:g.111971439_111971448del, NC_000013.11:g.111971440_111971448del, NC_000013.11:g.111971441_111971448del, NC_000013.11:g.111971442_111971448del, NC_000013.11:g.111971443_111971448del, NC_000013.11:g.111971444_111971448del, NC_000013.11:g.111971445_111971448del, NC_000013.11:g.111971446_111971448del, NC_000013.11:g.111971447_111971448del, NC_000013.11:g.111971448del, NC_000013.11:g.111971448dup, NC_000013.11:g.111971447_111971448dup, NC_000013.11:g.111971446_111971448dup, NC_000013.11:g.111971445_111971448dup, NC_000013.11:g.111971444_111971448dup, NC_000013.11:g.111971443_111971448dup, NC_000013.11:g.111971442_111971448dup, NC_000013.11:g.111971441_111971448dup, NC_000013.11:g.111971440_111971448dup, NC_000013.11:g.111971439_111971448dup, NC_000013.11:g.111971438_111971448dup, NC_000013.11:g.111971437_111971448dup, NC_000013.11:g.111971436_111971448dup, NC_000013.11:g.111971435_111971448dup, NC_000013.11:g.111971434_111971448dup, NC_000013.11:g.111971433_111971448dup, NC_000013.11:g.111971432_111971448dup, NC_000013.11:g.111971431_111971448dup, NC_000013.11:g.111971426_111971448dup, NC_000013.10:g.112625746_112625762del, NC_000013.10:g.112625748_112625762del, NC_000013.10:g.112625749_112625762del, NC_000013.10:g.112625750_112625762del, NC_000013.10:g.112625751_112625762del, NC_000013.10:g.112625752_112625762del, NC_000013.10:g.112625753_112625762del, NC_000013.10:g.112625754_112625762del, NC_000013.10:g.112625755_112625762del, NC_000013.10:g.112625756_112625762del, NC_000013.10:g.112625757_112625762del, NC_000013.10:g.112625758_112625762del, NC_000013.10:g.112625759_112625762del, NC_000013.10:g.112625760_112625762del, NC_000013.10:g.112625761_112625762del, NC_000013.10:g.112625762del, NC_000013.10:g.112625762dup, NC_000013.10:g.112625761_112625762dup, NC_000013.10:g.112625760_112625762dup, NC_000013.10:g.112625759_112625762dup, NC_000013.10:g.112625758_112625762dup, NC_000013.10:g.112625757_112625762dup, NC_000013.10:g.112625756_112625762dup, NC_000013.10:g.112625755_112625762dup, NC_000013.10:g.112625754_112625762dup, NC_000013.10:g.112625753_112625762dup, NC_000013.10:g.112625752_112625762dup, NC_000013.10:g.112625751_112625762dup, NC_000013.10:g.112625750_112625762dup, NC_000013.10:g.112625749_112625762dup, NC_000013.10:g.112625748_112625762dup, NC_000013.10:g.112625747_112625762dup, NC_000013.10:g.112625746_112625762dup, NC_000013.10:g.112625745_112625762dup, NC_000013.10:g.112625740_112625762dup

Select item 14915410686.

rs1491541068 has merged into rs112744108 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 13:112069454 (GRCh38)
13:112723768 (GRCh37)
Canonical SPDI:: NC_000013.11:112069445:TTTTTTTTTTT:TTTTTTTT,NC_000013.11:112069445:TTTTTTTTTTT:TTTTTTTTT,NC_000013.11:112069445:TTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:112069445:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:112069445:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:112069445:TTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: SOX1 (Varview), SOX1-OT (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.090036/347 (ALSPAC)
-=0.092233/342 (TWINSUK)
-=0.118093/31258 (TOPMED)
-=0.146965/736 (1000Genomes)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000013.11:g.112069454_112069456del, NC_000013.11:g.112069455_112069456del, NC_000013.11:g.112069456del, NC_000013.11:g.112069456dup, NC_000013.11:g.112069455_112069456dup, NC_000013.11:g.112069454_112069456dup, NC_000013.10:g.112723768_112723770del, NC_000013.10:g.112723769_112723770del, NC_000013.10:g.112723770del, NC_000013.10:g.112723770dup, NC_000013.10:g.112723769_112723770dup, NC_000013.10:g.112723768_112723770dup, NM_005986.3:c.*620_*622del, NM_005986.3:c.*621_*622del, NM_005986.3:c.*622del, NM_005986.3:c.*622dup, NM_005986.3:c.*621_*622dup, NM_005986.3:c.*620_*622dup, NM_005986.2:c.*620_*622del, NM_005986.2:c.*621_*622del, NM_005986.2:c.*622del, NM_005986.2:c.*622dup, NM_005986.2:c.*621_*622dup, NM_005986.2:c.*620_*622dup

Select item 14915325797.

rs1491532579 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:111975153 (GRCh38)
13:112629467 (GRCh37)
Canonical SPDI:: NC_000013.11:111975152:AT:
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.111975153_111975154del, NC_000013.10:g.112629467_112629468del

Select item 14915199768.

rs1491519976 has merged into rs1555329159 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
Chromosome:: 13:112052755 (GRCh38)
13:112707069 (GRCh37)
Canonical SPDI:: NC_000013.11:112052744:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000013.11:112052744:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000013.11:112052744:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000013.11:112052744:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000013.11:112052744:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000013.11:112052744:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000013.11:112052744:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000013.11:112052744:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000013.11:112052744:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
-=0.00625/2 (NorthernSweden)
HGVS:: NC_000013.11:g.112052755_112052757del, NC_000013.11:g.112052756_112052757del, NC_000013.11:g.112052757del, NC_000013.11:g.112052757dup, NC_000013.11:g.112052756_112052757dup, NC_000013.11:g.112052755_112052757dup, NC_000013.11:g.112052754_112052757dup, NC_000013.11:g.112052753_112052757dup, NC_000013.11:g.112052752_112052757dup, NC_000013.10:g.112707069_112707071del, NC_000013.10:g.112707070_112707071del, NC_000013.10:g.112707071del, NC_000013.10:g.112707071dup, NC_000013.10:g.112707070_112707071dup, NC_000013.10:g.112707069_112707071dup, NC_000013.10:g.112707068_112707071dup, NC_000013.10:g.112707067_112707071dup, NC_000013.10:g.112707066_112707071dup

Select item 14915156619.

rs1491515661 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:112001185 (GRCh38)
13:112655499 (GRCh37)
Canonical SPDI:: NC_000013.11:112001184:CA:
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.112001185_112001186del, NC_000013.10:g.112655499_112655500del

Select item 149150047010.

rs1491500470 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:111971422 (GRCh38)
13:112625736 (GRCh37)
Canonical SPDI:: NC_000013.11:111971421:TA:
Gene:: SOX1-OT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.111971422_111971423del, NC_000013.10:g.112625736_112625737del

Select item 149146066811.

rs1491460668 has merged into rs11420509 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:112100725 (GRCh38)
13:112755039 (GRCh37)
Canonical SPDI:: NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:112100711:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0387/194 (1000Genomes)
HGVS:: NC_000013.11:g.112100725_112100730del, NC_000013.11:g.112100727_112100730del, NC_000013.11:g.112100728_112100730del, NC_000013.11:g.112100729_112100730del, NC_000013.11:g.112100730del, NC_000013.11:g.112100730dup, NC_000013.11:g.112100729_112100730dup, NC_000013.11:g.112100728_112100730dup, NC_000013.11:g.112100727_112100730dup, NC_000013.11:g.112100726_112100730dup, NC_000013.11:g.112100725_112100730dup, NC_000013.11:g.112100724_112100730dup, NC_000013.11:g.112100723_112100730dup, NC_000013.11:g.112100721_112100730dup, NC_000013.11:g.112100712_112100730T[29]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.112100730_112100731insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.112755039_112755044del, NC_000013.10:g.112755041_112755044del, NC_000013.10:g.112755042_112755044del, NC_000013.10:g.112755043_112755044del, NC_000013.10:g.112755044del, NC_000013.10:g.112755044dup, NC_000013.10:g.112755043_112755044dup, NC_000013.10:g.112755042_112755044dup, NC_000013.10:g.112755041_112755044dup, NC_000013.10:g.112755040_112755044dup, NC_000013.10:g.112755039_112755044dup, NC_000013.10:g.112755038_112755044dup, NC_000013.10:g.112755037_112755044dup, NC_000013.10:g.112755035_112755044dup, NC_000013.10:g.112755026_112755044T[29]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.112755044_112755045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149145066512.

rs1491450665 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:112046500 (GRCh38)
13:112700814 (GRCh37)
Canonical SPDI:: NC_000013.11:112046498:TAT:T
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.112046500_112046501del, NC_000013.10:g.112700814_112700815del

Select item 149143178113.

rs1491431781 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:112044995 (GRCh38)
13:112699309 (GRCh37)
Canonical SPDI:: NC_000013.11:112044994:AT:
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.017573/287 (ALFA)
-=0.000546/1 (Korea1K)
-=0.000602/10 (TOMMO)
-=0.002595/10 (ALSPAC)
-=0.002967/11 (TWINSUK)
-=0.012024/12 (GoNL)
-=0.026986/3732 (GnomAD)
-=0.027791/7356 (TOPMED)
-=0.034822/174 (1000Genomes)
HGVS:: NC_000013.11:g.112044995_112044996del, NC_000013.10:g.112699309_112699310del

Select item 149140773814.

rs1491407738 has merged into rs763634016 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAGAG [Show Flanks]
Chromosome:: 13:112035226 (GRCh38)
13:112689540 (GRCh37)
Canonical SPDI:: NC_000013.11:112035224:GAG:G,NC_000013.11:112035224:GAG:GAGAGAG
Gene:: SOX1-OT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAG=0./0 (ALFA)
HGVS:: NC_000013.11:g.112035226_112035227del, NC_000013.11:g.112035226AG[3], NC_000013.10:g.112689540_112689541del, NC_000013.10:g.112689540AG[3]

Select item 149138936915.

rs1491389369 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGG,CGGGCGG [Show Flanks]
Chromosome:: 13:111976363 (GRCh38)
13:112630678 (GRCh37)
Canonical SPDI:: NC_000013.11:111976363:GG:GGCGG,NC_000013.11:111976363:GG:GGCGGGCGG
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGG=0.00059/7 (ALFA)
GGCGGGC=0.00006/1 (TOMMO)
HGVS:: NC_000013.11:g.111976365_111976366insCGG, NC_000013.11:g.111976364_111976365GGCG[2]G[1], NC_000013.10:g.112630679_112630680insCGG, NC_000013.10:g.112630678_112630679GGCG[2]G[1]

Select item 149138468316.

rs1491384683 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:111974663 (GRCh38)
13:112628977 (GRCh37)
Canonical SPDI:: NC_000013.11:111974662:AT:
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.111974663_111974664del, NC_000013.10:g.112628977_112628978del

Select item 149138411117.

rs1491384111 has merged into rs527834140 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:111971432 (GRCh38)
13:112625746 (GRCh37)
Canonical SPDI:: NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:111971422:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SOX1-OT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.02911/17 (NorthernSweden)
HGVS:: NC_000013.11:g.111971432_111971448del, NC_000013.11:g.111971434_111971448del, NC_000013.11:g.111971435_111971448del, NC_000013.11:g.111971436_111971448del, NC_000013.11:g.111971437_111971448del, NC_000013.11:g.111971438_111971448del, NC_000013.11:g.111971439_111971448del, NC_000013.11:g.111971440_111971448del, NC_000013.11:g.111971441_111971448del, NC_000013.11:g.111971442_111971448del, NC_000013.11:g.111971443_111971448del, NC_000013.11:g.111971444_111971448del, NC_000013.11:g.111971445_111971448del, NC_000013.11:g.111971446_111971448del, NC_000013.11:g.111971447_111971448del, NC_000013.11:g.111971448del, NC_000013.11:g.111971448dup, NC_000013.11:g.111971447_111971448dup, NC_000013.11:g.111971446_111971448dup, NC_000013.11:g.111971445_111971448dup, NC_000013.11:g.111971444_111971448dup, NC_000013.11:g.111971443_111971448dup, NC_000013.11:g.111971442_111971448dup, NC_000013.11:g.111971441_111971448dup, NC_000013.11:g.111971440_111971448dup, NC_000013.11:g.111971439_111971448dup, NC_000013.11:g.111971438_111971448dup, NC_000013.11:g.111971437_111971448dup, NC_000013.11:g.111971436_111971448dup, NC_000013.11:g.111971435_111971448dup, NC_000013.11:g.111971434_111971448dup, NC_000013.11:g.111971433_111971448dup, NC_000013.11:g.111971432_111971448dup, NC_000013.11:g.111971431_111971448dup, NC_000013.11:g.111971426_111971448dup, NC_000013.10:g.112625746_112625762del, NC_000013.10:g.112625748_112625762del, NC_000013.10:g.112625749_112625762del, NC_000013.10:g.112625750_112625762del, NC_000013.10:g.112625751_112625762del, NC_000013.10:g.112625752_112625762del, NC_000013.10:g.112625753_112625762del, NC_000013.10:g.112625754_112625762del, NC_000013.10:g.112625755_112625762del, NC_000013.10:g.112625756_112625762del, NC_000013.10:g.112625757_112625762del, NC_000013.10:g.112625758_112625762del, NC_000013.10:g.112625759_112625762del, NC_000013.10:g.112625760_112625762del, NC_000013.10:g.112625761_112625762del, NC_000013.10:g.112625762del, NC_000013.10:g.112625762dup, NC_000013.10:g.112625761_112625762dup, NC_000013.10:g.112625760_112625762dup, NC_000013.10:g.112625759_112625762dup, NC_000013.10:g.112625758_112625762dup, NC_000013.10:g.112625757_112625762dup, NC_000013.10:g.112625756_112625762dup, NC_000013.10:g.112625755_112625762dup, NC_000013.10:g.112625754_112625762dup, NC_000013.10:g.112625753_112625762dup, NC_000013.10:g.112625752_112625762dup, NC_000013.10:g.112625751_112625762dup, NC_000013.10:g.112625750_112625762dup, NC_000013.10:g.112625749_112625762dup, NC_000013.10:g.112625748_112625762dup, NC_000013.10:g.112625747_112625762dup, NC_000013.10:g.112625746_112625762dup, NC_000013.10:g.112625745_112625762dup, NC_000013.10:g.112625740_112625762dup

Select item 149137648018.

rs1491376480 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:111975121 (GRCh38)
13:112629435 (GRCh37)
Canonical SPDI:: NC_000013.11:111975120:AT:
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.111975121_111975122del, NC_000013.10:g.112629435_112629436del

Select item 149131332619.

rs1491313326 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 13:112045219 (GRCh38)
13:112699534 (GRCh37)
Canonical SPDI:: NC_000013.11:112045219:A:ACA
Gene:: SOX1-OT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.112045220_112045221insCA, NC_000013.10:g.112699534_112699535insCA

Select item 149130390020.

rs1491303900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:112050257 (GRCh38)
13:112704572 (GRCh37)
Canonical SPDI:: NC_000013.11:112050257:A:AA,NC_000013.11:112050257:A:AAA,NC_000013.11:112050257:A:AAAA,NC_000013.11:112050257:A:AAAAA,NC_000013.11:112050257:A:AAAAAA,NC_000013.11:112050257:A:AAAAAAA,NC_000013.11:112050257:A:AAAAAAAAA,NC_000013.11:112050257:A:AAAAAAAAAA,NC_000013.11:112050257:A:AAAAAAAAAAAA,NC_000013.11:112050257:A:AAAAAAAAAAAAA,NC_000013.11:112050257:A:AAAAAAAAAAAAAAAAA,NC_000013.11:112050257:A:AAAAAAAAAAAAAAAAAAA,NC_000013.11:112050257:A:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:112050257:A:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SOX1-OT (Varview), LOC124900341 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.00062/10 (TOMMO)
HGVS:: NC_000013.11:g.112050258dup, NC_000013.11:g.112050258_112050259insAA, NC_000013.11:g.112050258_112050259insAAA, NC_000013.11:g.112050258_112050259insAAAA, NC_000013.11:g.112050258_112050259insAAAAA, NC_000013.11:g.112050258_112050259insAAAAAA, NC_000013.11:g.112050258_112050259insAAAAAAAA, NC_000013.11:g.112050258_112050259insAAAAAAAAA, NC_000013.11:g.112050258_112050259insAAAAAAAAAAA, NC_000013.11:g.112050258_112050259insAAAAAAAAAAAA, NC_000013.11:g.112050258_112050259insAAAAAAAAAAAAAAAA, NC_000013.11:g.112050258_112050259insAAAAAAAAAAAAAAAAAA, NC_000013.11:g.112050258_112050259insAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.112050258_112050259insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.112704572dup, NC_000013.10:g.112704572_112704573insAA, NC_000013.10:g.112704572_112704573insAAA, NC_000013.10:g.112704572_112704573insAAAA, NC_000013.10:g.112704572_112704573insAAAAA, NC_000013.10:g.112704572_112704573insAAAAAA, NC_000013.10:g.112704572_112704573insAAAAAAAA, NC_000013.10:g.112704572_112704573insAAAAAAAAA, NC_000013.10:g.112704572_112704573insAAAAAAAAAAA, NC_000013.10:g.112704572_112704573insAAAAAAAAAAAA, NC_000013.10:g.112704572_112704573insAAAAAAAAAAAAAAAA, NC_000013.10:g.112704572_112704573insAAAAAAAAAAAAAAAAAA, NC_000013.10:g.112704572_112704573insAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.112704572_112704573insAAAAAAAAAAAAAAAAAAAAAAAAA

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