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Select item 14912789951.

rs1491278995 has merged into rs1382397054 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 17:19062104 (GRCh38)
17:18965417 (GRCh37)
Canonical SPDI:: NC_000017.11:19062100:GAGAG:GAG,NC_000017.11:19062100:GAGAG:GAGAGAG
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGAGAG=0.000084/1 (ALFA)
-=0.000027/4 (GnomAD_exomes)
-=0.00005/3 (ExAC)
HGVS:: NC_000017.11:g.19062102AG[1], NC_000017.11:g.19062102AG[3], NC_000017.10:g.18965415AG[1], NC_000017.10:g.18965415AG[3], NR_003271.1:n.191AG[1], NR_003271.1:n.191AG[3]

Select item 14903745492.

rs1490374549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19062219 (GRCh38)
17:18965532 (GRCh37)
Canonical SPDI:: NC_000017.11:19062218:A:G
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001433/17 (ALFA)
G=0.00015/2 (TOMMO)
G=0.001405/9 (1000Genomes)
G=0.00169/194 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.19062219A>G, NC_000017.10:g.18965532A>G

Select item 14901771543.

rs1490177154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:19062432 (GRCh38)
17:18965745 (GRCh37)
Canonical SPDI:: NC_000017.11:19062431:T:C,NC_000017.11:19062431:T:G
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.19062432T>C, NC_000017.11:g.19062432T>G, NC_000017.10:g.18965745T>C, NC_000017.10:g.18965745T>G

Select item 14900135724.

rs1490013572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:19062255 (GRCh38)
17:18965568 (GRCh37)
Canonical SPDI:: NC_000017.11:19062254:T:C,NC_000017.11:19062254:T:G
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000017.11:g.19062255T>C, NC_000017.11:g.19062255T>G, NC_000017.10:g.18965568T>C, NC_000017.10:g.18965568T>G

Select item 14875165575.

rs1487516557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:19062406 (GRCh38)
17:18965719 (GRCh37)
Canonical SPDI:: NC_000017.11:19062405:G:A,NC_000017.11:19062405:G:C
Gene:: SNORD3B-1 (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.19062406G>A, NC_000017.11:g.19062406G>C, NC_000017.10:g.18965719G>A, NC_000017.10:g.18965719G>C

Select item 14853653476.

rs1485365347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:19062215 (GRCh38)
17:18965528 (GRCh37)
Canonical SPDI:: NC_000017.11:19062214:C:G,NC_000017.11:19062214:C:T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00015/2 (TOMMO)
T=0.00016/1 (1000Genomes)
T=0.00059/1 (Korea1K)
T=0.00145/4 (KOREAN)
T=0.00833/5 (NorthernSweden)
HGVS:: NC_000017.11:g.19062215C>G, NC_000017.11:g.19062215C>T, NC_000017.10:g.18965528C>G, NC_000017.10:g.18965528C>T

Select item 14849402967.

rs1484940296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:19062390 (GRCh38)
17:18965703 (GRCh37)
Canonical SPDI:: NC_000017.11:19062389:A:C,NC_000017.11:19062389:A:G
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000018/2 (GnomAD)
HGVS:: NC_000017.11:g.19062390A>C, NC_000017.11:g.19062390A>G, NC_000017.10:g.18965703A>C, NC_000017.10:g.18965703A>G

Select item 14845912498.

rs1484591249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19060778 (GRCh38)
17:18964091 (GRCh37)
Canonical SPDI:: NC_000017.11:19060777:C:T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00084/10 (ALFA)
T=0.22581/28 (KOREAN)
HGVS:: NC_000017.11:g.19060778C>T, NC_000017.10:g.18964091C>T

Select item 14838945349.

rs1483894534 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:19061423 (GRCh38)
17:18964736 (GRCh37)
Canonical SPDI:: NC_000017.11:19061422:C:
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.19061423del, NC_000017.10:g.18964736del

Select item 148297115710.

rs1482971157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:19061944 (GRCh38)
17:18965257 (GRCh37)
Canonical SPDI:: NC_000017.11:19061943:G:A,NC_000017.11:19061943:G:C,NC_000017.11:19061943:G:T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
A=0.00005/4 (GnomAD)
HGVS:: NC_000017.11:g.19061944G>A, NC_000017.11:g.19061944G>C, NC_000017.11:g.19061944G>T, NC_000017.10:g.18965257G>A, NC_000017.10:g.18965257G>C, NC_000017.10:g.18965257G>T, NR_003271.1:n.33G>A, NR_003271.1:n.33G>C, NR_003271.1:n.33G>T

Select item 148277861011.

rs1482778610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 17:19062287 (GRCh38)
17:18965600 (GRCh37)
Canonical SPDI:: NC_000017.11:19062286:A:C,NC_000017.11:19062286:A:G,NC_000017.11:19062286:A:T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00082/13 (TOMMO)
G=0.00282/5 (Korea1K)
HGVS:: NC_000017.11:g.19062287A>C, NC_000017.11:g.19062287A>G, NC_000017.11:g.19062287A>T, NC_000017.10:g.18965600A>C, NC_000017.10:g.18965600A>G, NC_000017.10:g.18965600A>T

Select item 148214426112.

rs1482144261 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 17:19061984 (GRCh38)
17:18965298 (GRCh37)
Canonical SPDI:: NC_000017.11:19061984::C,NC_000017.11:19061984::T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000013/1 (GnomAD)
HGVS:: NC_000017.11:g.19061984_19061985insC, NC_000017.11:g.19061984_19061985insT, NC_000017.10:g.18965297_18965298insC, NC_000017.10:g.18965297_18965298insT, NR_003271.1:n.73_74insC, NR_003271.1:n.73_74insT

Select item 148209412213.

rs1482094122 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGG [Show Flanks]
Chromosome:: 17:19062602 (GRCh38)
17:18965915 (GRCh37)
Canonical SPDI:: NC_000017.11:19062599:GGGG:GG,NC_000017.11:19062599:GGGG:GGGGG
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.19062602_19062603del, NC_000017.11:g.19062603dup, NC_000017.10:g.18965915_18965916del, NC_000017.10:g.18965916dup

Select item 148175044114.

rs1481750441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19061411 (GRCh38)
17:18964724 (GRCh37)
Canonical SPDI:: NC_000017.11:19061410:A:G
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00007/2 (TOMMO)
G=0.02129/58 (KOREAN)
HGVS:: NC_000017.11:g.19061411A>G, NC_000017.10:g.18964724A>G

Select item 148161115415.

rs1481611154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19062628 (GRCh38)
17:18965941 (GRCh37)
Canonical SPDI:: NC_000017.11:19062627:C:T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00025/3 (ALFA)
HGVS:: NC_000017.11:g.19062628C>T, NC_000017.10:g.18965941C>T

Select item 148050799716.

rs1480507997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:19062295 (GRCh38)
17:18965608 (GRCh37)
Canonical SPDI:: NC_000017.11:19062294:C:A,NC_000017.11:19062294:C:T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000068/7 (GnomAD)
T=0.001093/7 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.19062295C>A, NC_000017.11:g.19062295C>T, NC_000017.10:g.18965608C>A, NC_000017.10:g.18965608C>T

Select item 147998014917.

rs1479980149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:19062393 (GRCh38)
17:18965706 (GRCh37)
Canonical SPDI:: NC_000017.11:19062392:C:G,NC_000017.11:19062392:C:T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00031/2 (1000Genomes)
HGVS:: NC_000017.11:g.19062393C>G, NC_000017.11:g.19062393C>T, NC_000017.10:g.18965706C>G, NC_000017.10:g.18965706C>T

Select item 147969252318.

rs1479692523 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCTTTTT>- [Show Flanks]
Chromosome:: 17:19062273 (GRCh38)
17:18965586 (GRCh37)
Canonical SPDI:: NC_000017.11:19062271:TGGCTTTTT:T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000422/5 (ALFA)
-=0.000762/80 (GnomAD)
HGVS:: NC_000017.11:g.19062273_19062280del, NC_000017.10:g.18965586_18965593del

Select item 147848691719.

rs1478486917 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:19061858 (GRCh38)
17:18965171 (GRCh37)
Canonical SPDI:: NC_000017.11:19061857:A:C,NC_000017.11:19061857:A:T
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00003/1 (GnomAD)
HGVS:: NC_000017.11:g.19061858A>C, NC_000017.11:g.19061858A>T, NC_000017.10:g.18965171A>C, NC_000017.10:g.18965171A>T

Select item 147769877420.

rs1477698774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19061763 (GRCh38)
17:18965076 (GRCh37)
Canonical SPDI:: NC_000017.11:19061762:T:C
Gene:: SNORD3B-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00173/3 (Korea1K)
HGVS:: NC_000017.11:g.19061763T>C, NC_000017.10:g.18965076T>C

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