SNP Links for Gene (Select 780852) - SNP

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Select item 14914411651.

rs1491441165 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CAA,G [Show Flanks]
Chromosome:: 17:19063468 (GRCh38)
17:18966782 (GRCh37)
Canonical SPDI:: NC_000017.11:19063468::CA,NC_000017.11:19063468::CAA,NC_000017.11:19063468::G
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.19063468_19063469insCA, NC_000017.11:g.19063468_19063469insCAA, NC_000017.11:g.19063468_19063469insG, NC_000017.10:g.18966781_18966782insCA, NC_000017.10:g.18966781_18966782insCAA, NC_000017.10:g.18966781_18966782insG

Select item 14913967892.

rs1491396789 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:19063468 (GRCh38)
17:18966781 (GRCh37)
Canonical SPDI:: NC_000017.11:19063467:CA:
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.19063468_19063469del, NC_000017.10:g.18966781_18966782del

Select item 14912880293.

rs1491288029 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:19063877 (GRCh38)
17:18967190 (GRCh37)
Canonical SPDI:: NC_000017.11:19063876:GT:
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.000011/2 (GnomAD_exomes)
-=0.000023/2 (ExAC)
HGVS:: NC_000017.11:g.19063877_19063878del, NC_000017.10:g.18967190_18967191del

Select item 14912869734.

rs1491286973 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:19063719 (GRCh38)
17:18967032 (GRCh37)
Canonical SPDI:: NC_000017.11:19063717:ACA:A
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000024/3 (GnomAD)
HGVS:: NC_000017.11:g.19063719_19063720del, NC_000017.10:g.18967032_18967033del

Select item 14911878755.

rs1491187875 has merged into rs1442987315 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 17:19063942 (GRCh38)
17:18967255 (GRCh37)
Canonical SPDI:: NC_000017.11:19063940:CCC:C,NC_000017.11:19063940:CCC:CCCCC
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000011/1 (GnomAD)
-=0.000011/2 (GnomAD_exomes)
-=0.000012/1 (ExAC)
-=0.000045/1 (TOMMO)
HGVS:: NC_000017.11:g.19063942_19063943del, NC_000017.11:g.19063942_19063943dup, NC_000017.10:g.18967255_18967256del, NC_000017.10:g.18967255_18967256dup, NR_003924.1:n.195_196del, NR_003924.1:n.195_196dup

Select item 14910853326.

rs1491085332 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:19064051 (GRCh38)
17:18967364 (GRCh37)
Canonical SPDI:: NC_000017.11:19064046:CTCTCT:CTCT
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0./0 (Korea1K)
-=0.000153/25 (GnomAD_exomes)
-=0.000583/8 (TOMMO)
HGVS:: NC_000017.11:g.19064047CT[2], NC_000017.10:g.18967360CT[2], NR_003924.1:n.85AG[2]

Select item 14897835447.

rs1489783544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19064545 (GRCh38)
17:18967858 (GRCh37)
Canonical SPDI:: NC_000017.11:19064544:T:C
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.19064545T>C, NC_000017.10:g.18967858T>C

Select item 14896599708.

rs1489659970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19063768 (GRCh38)
17:18967081 (GRCh37)
Canonical SPDI:: NC_000017.11:19063767:T:C
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000169/2 (ALFA)
C=0.000057/6 (GnomAD)
HGVS:: NC_000017.11:g.19063768T>C, NC_000017.10:g.18967081T>C

Select item 14896116539.

rs1489611653 has merged into rs1217356111 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:19063474 (GRCh38)
17:18966787 (GRCh37)
Canonical SPDI:: NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.19063474_19063487del, NC_000017.11:g.19063479_19063487del, NC_000017.11:g.19063480_19063487del, NC_000017.11:g.19063481_19063487del, NC_000017.11:g.19063482_19063487del, NC_000017.11:g.19063483_19063487del, NC_000017.11:g.19063484_19063487del, NC_000017.11:g.19063485_19063487del, NC_000017.11:g.19063486_19063487del, NC_000017.11:g.19063487del, NC_000017.11:g.19063487dup, NC_000017.11:g.19063486_19063487dup, NC_000017.11:g.19063485_19063487dup, NC_000017.11:g.19063484_19063487dup, NC_000017.11:g.19063483_19063487dup, NC_000017.11:g.19063482_19063487dup, NC_000017.11:g.19063481_19063487dup, NC_000017.11:g.19063480_19063487dup, NC_000017.11:g.19063479_19063487dup, NC_000017.10:g.18966787_18966800del, NC_000017.10:g.18966792_18966800del, NC_000017.10:g.18966793_18966800del, NC_000017.10:g.18966794_18966800del, NC_000017.10:g.18966795_18966800del, NC_000017.10:g.18966796_18966800del, NC_000017.10:g.18966797_18966800del, NC_000017.10:g.18966798_18966800del, NC_000017.10:g.18966799_18966800del, NC_000017.10:g.18966800del, NC_000017.10:g.18966800dup, NC_000017.10:g.18966799_18966800dup, NC_000017.10:g.18966798_18966800dup, NC_000017.10:g.18966797_18966800dup, NC_000017.10:g.18966796_18966800dup, NC_000017.10:g.18966795_18966800dup, NC_000017.10:g.18966794_18966800dup, NC_000017.10:g.18966793_18966800dup, NC_000017.10:g.18966792_18966800dup

Select item 148932419110.

rs1489324191 has merged into rs1217356111 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:19063474 (GRCh38)
17:18966787 (GRCh37)
Canonical SPDI:: NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:19063468:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.19063474_19063487del, NC_000017.11:g.19063479_19063487del, NC_000017.11:g.19063480_19063487del, NC_000017.11:g.19063481_19063487del, NC_000017.11:g.19063482_19063487del, NC_000017.11:g.19063483_19063487del, NC_000017.11:g.19063484_19063487del, NC_000017.11:g.19063485_19063487del, NC_000017.11:g.19063486_19063487del, NC_000017.11:g.19063487del, NC_000017.11:g.19063487dup, NC_000017.11:g.19063486_19063487dup, NC_000017.11:g.19063485_19063487dup, NC_000017.11:g.19063484_19063487dup, NC_000017.11:g.19063483_19063487dup, NC_000017.11:g.19063482_19063487dup, NC_000017.11:g.19063481_19063487dup, NC_000017.11:g.19063480_19063487dup, NC_000017.11:g.19063479_19063487dup, NC_000017.10:g.18966787_18966800del, NC_000017.10:g.18966792_18966800del, NC_000017.10:g.18966793_18966800del, NC_000017.10:g.18966794_18966800del, NC_000017.10:g.18966795_18966800del, NC_000017.10:g.18966796_18966800del, NC_000017.10:g.18966797_18966800del, NC_000017.10:g.18966798_18966800del, NC_000017.10:g.18966799_18966800del, NC_000017.10:g.18966800del, NC_000017.10:g.18966800dup, NC_000017.10:g.18966799_18966800dup, NC_000017.10:g.18966798_18966800dup, NC_000017.10:g.18966797_18966800dup, NC_000017.10:g.18966796_18966800dup, NC_000017.10:g.18966795_18966800dup, NC_000017.10:g.18966794_18966800dup, NC_000017.10:g.18966793_18966800dup, NC_000017.10:g.18966792_18966800dup

Select item 148887575311.

rs1488875753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:19063725 (GRCh38)
17:18967038 (GRCh37)
Canonical SPDI:: NC_000017.11:19063724:G:A,NC_000017.11:19063724:G:C,NC_000017.11:19063724:G:T
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00008/2 (TOMMO)
HGVS:: NC_000017.11:g.19063725G>A, NC_000017.11:g.19063725G>C, NC_000017.11:g.19063725G>T, NC_000017.10:g.18967038G>A, NC_000017.10:g.18967038G>C, NC_000017.10:g.18967038G>T

Select item 148881873512.

rs1488818735 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGGGGGGG>- [Show Flanks]
Chromosome:: 17:19064565 (GRCh38)
17:18967878 (GRCh37)
Canonical SPDI:: NC_000017.11:19064557:GGGGGGGGCGGGGGGG:GGGGGGG
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.19064565_19064573del, NC_000017.10:g.18967878_18967886del

Select item 148834637413.

rs1488346374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19063571 (GRCh38)
17:18966884 (GRCh37)
Canonical SPDI:: NC_000017.11:19063570:G:A
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.19063571G>A, NC_000017.10:g.18966884G>A

Select item 148824624914.

rs1488246249 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGACAATAG [Show Flanks]
Chromosome:: 17:19063713 (GRCh38)
17:18967027 (GRCh37)
Canonical SPDI:: NC_000017.11:19063713:AGAGACAATAG:AGAGACAATAGAGACAATAG
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AGAGACAATAGAGACAATAG=0./0 (ALFA)
AGAGACAAT=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.19063716_19063724dup, NC_000017.10:g.18967029_18967037dup

Select item 148821907715.

rs1488219077 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAAAA>- [Show Flanks]
Chromosome:: 17:19063767 (GRCh38)
17:18967080 (GRCh37)
Canonical SPDI:: NC_000017.11:19063761:TAAAATTAAAA:TAAAA
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.19063767_19063772del, NC_000017.10:g.18967080_18967085del

Select item 148726187816.

rs1487261878 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:19063777 (GRCh38)
17:18967091 (GRCh37)
Canonical SPDI:: NC_000017.11:19063777:CCCC:CCCCC
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CCCCC=0.000253/3 (ALFA)
C=0.000077/8 (GnomAD)
HGVS:: NC_000017.11:g.19063781dup, NC_000017.10:g.18967094dup

Select item 148724381517.

rs1487243815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:19063528 (GRCh38)
17:18966841 (GRCh37)
Canonical SPDI:: NC_000017.11:19063527:G:A,NC_000017.11:19063527:G:C
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.19063528G>A, NC_000017.11:g.19063528G>C, NC_000017.10:g.18966841G>A, NC_000017.10:g.18966841G>C

Select item 148689396118.

rs1486893961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:19063450 (GRCh38)
17:18966763 (GRCh37)
Canonical SPDI:: NC_000017.11:19063449:C:A,NC_000017.11:19063449:C:T
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/2 (GnomAD)
HGVS:: NC_000017.11:g.19063450C>A, NC_000017.11:g.19063450C>T, NC_000017.10:g.18966763C>A, NC_000017.10:g.18966763C>T

Select item 148654171519.

rs1486541715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19064366 (GRCh38)
17:18967679 (GRCh37)
Canonical SPDI:: NC_000017.11:19064365:A:G
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/1 (GnomAD)
HGVS:: NC_000017.11:g.19064366A>G, NC_000017.10:g.18967679A>G

Select item 148556117120.

rs1485561171 has merged into rs1202403982 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGGGGGGGG [Show Flanks]
Chromosome:: 17:19064567 (GRCh38)
17:18967880 (GRCh37)
Canonical SPDI:: NC_000017.11:19064566:GGGGGGG:GGGGGG,NC_000017.11:19064566:GGGGGGG:GGGGGGGG,NC_000017.11:19064566:GGGGGGG:GGGGGGGGGGGGGGG
Gene:: SNORD3B-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.19064573del, NC_000017.11:g.19064573dup, NC_000017.11:g.19064573_19064574insGGGGGGGG, NC_000017.10:g.18967886del, NC_000017.10:g.18967886dup, NC_000017.10:g.18967886_18967887insGGGGGGGG

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