SNP Links for Gene (Select 583) - SNP

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Select item 14915419971.

rs1491541997 has merged into rs1329110345 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 16:56490153 (GRCh38)
16:56524065 (GRCh37)
Canonical SPDI:: NC_000016.10:56490149:AAAAA:AAA,NC_000016.10:56490149:AAAAA:AAAAAAA
Gene:: BBS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000106/2 (TOMMO)
HGVS:: NC_000016.10:g.56490153_56490154del, NC_000016.10:g.56490153_56490154dup, NC_000016.9:g.56524065_56524066del, NC_000016.9:g.56524065_56524066dup, NG_009312.2:g.34874_34875del, NG_009312.2:g.34874_34875dup

Select item 14915202442.

rs1491520244 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:56484004 (GRCh38)
16:56517917 (GRCh37)
Canonical SPDI:: NC_000016.10:56484004:T:TT
Gene:: BBS2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000011/1 (GnomAD)
HGVS:: NC_000016.10:g.56484005dup, NC_000016.9:g.56517917dup, NG_009312.2:g.41020dup

Select item 14913221303.

rs1491322130 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:56484006 (GRCh38)
16:56517918 (GRCh37)
Canonical SPDI:: NC_000016.10:56484003:ATAT:AT
Gene:: BBS2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000016.10:g.56484004AT[1], NC_000016.9:g.56517916AT[1], NG_009312.2:g.41018AT[1]

Select item 14912992324.

rs1491299232 [Homo sapiens]

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

Select item 14909782325.

rs1490978232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:56480348 (GRCh38)
16:56514260 (GRCh37)
Canonical SPDI:: NC_000016.10:56480347:C:A
Gene:: BBS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.56480348C>A, NC_000016.9:g.56514260C>A, NG_009312.2:g.44677G>T

Select item 14909293926.

rs1490929392 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTATTA>-,TTA [Show Flanks]
Chromosome:: 16:56518536 (GRCh38)
16:56552448 (GRCh37)
Canonical SPDI:: NC_000016.10:56518533:TATTATTA:TA,NC_000016.10:56518533:TATTATTA:TATTA
Gene:: BBS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.56518536_56518541del, NC_000016.10:g.56518536TTA[1], NC_000016.9:g.56552448_56552453del, NC_000016.9:g.56552448TTA[1], NG_009312.2:g.6486_6491del, NG_009312.2:g.6486ATA[1]

Select item 14907762497.

rs1490776249 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGT>- [Show Flanks]
Chromosome:: 16:56508222 (GRCh38)
16:56542134 (GRCh37)
Canonical SPDI:: NC_000016.10:56508220:TAGT:T
Gene:: BBS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.56508222_56508224del, NC_000016.9:g.56542134_56542136del, NG_009312.2:g.16802_16804del

Select item 14907460638.

rs1490746063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56507225 (GRCh38)
16:56541137 (GRCh37)
Canonical SPDI:: NC_000016.10:56507224:C:T
Gene:: BBS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.56507225C>T, NC_000016.9:g.56541137C>T, NG_009312.2:g.17800G>A, NG_080387.1:g.309C>T

Select item 14907158229.

rs1490715822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56500227 (GRCh38)
16:56534139 (GRCh37)
Canonical SPDI:: NC_000016.10:56500226:T:C
Gene:: BBS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.56500227T>C, NC_000016.9:g.56534139T>C, NG_009312.2:g.24798A>G

Select item 149068253410.

rs1490682534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56491354 (GRCh38)
16:56525266 (GRCh37)
Canonical SPDI:: NC_000016.10:56491353:T:C
Gene:: BBS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.56491354T>C, NC_000016.9:g.56525266T>C, NG_009312.2:g.33671A>G

Select item 149062920011.

rs1490629200 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 16:56486281 (GRCh38)
16:56520194 (GRCh37)
Canonical SPDI:: NC_000016.10:56486281:TTT:TTTTTT
Gene:: BBS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
TTT=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.56486282_56486284dup, NC_000016.9:g.56520194_56520196dup, NG_009312.2:g.38741_38743dup

Select item 149059365112.

rs1490593651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56519284 (GRCh38)
16:56553196 (GRCh37)
Canonical SPDI:: NC_000016.10:56519283:T:C
Gene:: BBS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000278/38 (GnomAD)
HGVS:: NC_000016.10:g.56519284T>C, NC_000016.9:g.56553196T>C, NG_009312.2:g.5741A>G

Select item 149058080313.

rs1490580803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:56506641 (GRCh38)
16:56540553 (GRCh37)
Canonical SPDI:: NC_000016.10:56506640:A:G
Gene:: BBS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.56506641A>G, NC_000016.9:g.56540553A>G, NG_009312.2:g.18384T>C

Select item 149050937914.

rs1490509379 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 16:56498100 (GRCh38)
16:56532012 (GRCh37)
Canonical SPDI:: NC_000016.10:56498099:AAAA:AAA,NC_000016.10:56498099:AAAA:AAAAA
Gene:: BBS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.56498103del, NC_000016.10:g.56498103dup, NC_000016.9:g.56532015del, NC_000016.9:g.56532015dup, NG_009312.2:g.26925del, NG_009312.2:g.26925dup

Select item 149048294415.

rs1490482944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:56499336 (GRCh38)
16:56533248 (GRCh37)
Canonical SPDI:: NC_000016.10:56499335:A:T
Gene:: BBS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.56499336A>T, NC_000016.9:g.56533248A>T, NG_009312.2:g.25689T>A

Select item 149043002516.

rs1490430025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56481761 (GRCh38)
16:56515673 (GRCh37)
Canonical SPDI:: NC_000016.10:56481760:G:A
Gene:: BBS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.56481761G>A, NC_000016.9:g.56515673G>A, NG_009312.2:g.43264C>T

Select item 149039715917.

rs1490397159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:56496941 (GRCh38)
16:56530853 (GRCh37)
Canonical SPDI:: NC_000016.10:56496940:C:G
Gene:: BBS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.56496941C>G, NC_000016.9:g.56530853C>G, NG_009312.2:g.28084G>C

Select item 149028612018.

rs1490286120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:56508689 (GRCh38)
16:56542601 (GRCh37)
Canonical SPDI:: NC_000016.10:56508688:T:C,NC_000016.10:56508688:T:G
Gene:: BBS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.56508689T>C, NC_000016.10:g.56508689T>G, NC_000016.9:g.56542601T>C, NC_000016.9:g.56542601T>G, NG_009312.2:g.16336A>G, NG_009312.2:g.16336A>C

Select item 149028505719.

rs1490285057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56500809 (GRCh38)
16:56534721 (GRCh37)
Canonical SPDI:: NC_000016.10:56500808:C:T
Gene:: BBS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56500809C>T, NC_000016.9:g.56534721C>T, NG_009312.2:g.24216G>A

Select item 149026381220.

rs1490263812 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGTATAGTGTCCTGGA [Show Flanks]
Chromosome:: 16:56520908 (GRCh38)
16:56554821 (GRCh37)
Canonical SPDI:: NC_000016.10:56520908:GGAGAGTATAGTGTCCTGGA:GGAGAGTATAGTGTCCTGGAGAGTATAGTGTCCTGGA
Gene:: BBS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGAGTATAGTGTCCTGGAGAGTATAGTGTCCTGGA=0.000796/13 (ALFA)
GGAGAGTATAGTGTCCT=0.000328/46 (GnomAD)
GGAGAGTATAGTGTCCT=0.002455/11 (Estonian)
HGVS:: NC_000016.10:g.56520912_56520928dup, NC_000016.9:g.56554824_56554840dup, NG_009312.2:g.4100_4116dup

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