SNP Links for Gene (Select 582) - SNP

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Select item 14912084941.

rs1491208494 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:66516145 (GRCh38)
11:66283616 (GRCh37)
Canonical SPDI:: NC_000011.10:66516144:TG:
Gene:: BBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
-=0.00121/34 (TOMMO)
HGVS:: NC_000011.10:g.66516145_66516146del, NC_000011.9:g.66283616_66283617del, NG_009093.1:g.10498_10499del

Select item 14912009412.

rs1491200941 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:66516145 (GRCh38)
11:66283617 (GRCh37)
Canonical SPDI:: NC_000011.10:66516145:G:GG
Gene:: BBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000017/2 (GnomAD)
HGVS:: NC_000011.10:g.66516146dup, NC_000011.9:g.66283617dup, NG_009093.1:g.10499dup

Select item 14911269623.

rs1491126962 [Homo sapiens]

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

Select item 14911099874.

rs1491109987 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:66510165 (GRCh38)
11:66277636 (GRCh37)
Canonical SPDI:: NC_000011.10:66510164:CA:
Gene:: BBS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.66510165_66510166del, NC_000011.9:g.66277636_66277637del, NG_032068.1:g.34757_34758del, NG_009093.1:g.4518_4519del

Select item 14908681075.

rs1490868107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:66514567 (GRCh38)
11:66282038 (GRCh37)
Canonical SPDI:: NC_000011.10:66514566:T:G
Gene:: BBS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66514567T>G, NC_000011.9:g.66282038T>G, NG_009093.1:g.8920T>G, NM_024649.5:c.321T>G, NM_024649.4:c.321T>G

Select item 14908355526.

rs1490835552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66522098 (GRCh38)
11:66289569 (GRCh37)
Canonical SPDI:: NC_000011.10:66522097:T:C
Gene:: BBS1 (Varview), ZDHHC24 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000429/7 (ALFA)
C=0.00011/14 (GnomAD)
C=0.000849/24 (TOMMO)
C=0.000893/4 (Estonian)
C=0.001093/7 (1000Genomes)
C=0.006845/20 (KOREAN)
HGVS:: NC_000011.10:g.66522098T>C, NC_000011.9:g.66289569T>C, NG_009093.1:g.16451T>C

Select item 14908102647.

rs1490810264 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:66524059 (GRCh38)
11:66291530 (GRCh37)
Canonical SPDI:: NC_000011.10:66524058:C:
Gene:: BBS1 (Varview), ZDHHC24 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.66524059del, NC_000011.9:g.66291530del, NG_009093.1:g.18412del

Select item 14907719388.

rs1490771938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66510855 (GRCh38)
11:66278326 (GRCh37)
Canonical SPDI:: NC_000011.10:66510854:G:A
Gene:: BBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66510855G>A, NC_000011.9:g.66278326G>A, NG_032068.1:g.35447G>A, NG_009093.1:g.5208G>A

Select item 14903776309.

rs1490377630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:66515668 (GRCh38)
11:66283139 (GRCh37)
Canonical SPDI:: NC_000011.10:66515667:G:C,NC_000011.10:66515667:G:T
Gene:: BBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.66515668G>C, NC_000011.10:g.66515668G>T, NC_000011.9:g.66283139G>C, NC_000011.9:g.66283139G>T, NG_009093.1:g.10021G>C, NG_009093.1:g.10021G>T

Select item 149035182910.

rs1490351829 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:66511083 (GRCh38)
11:66278554 (GRCh37)
Canonical SPDI:: NC_000011.10:66511082:T:
Gene:: BBS1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66511083del, NC_000011.9:g.66278554del, NG_032068.1:g.35675del, NG_009093.1:g.5436del, NM_024649.5:c.118del, NM_024649.4:c.118del, NP_078925.3:p.Cys40fs

Select item 149034929911.

rs1490349299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66522734 (GRCh38)
11:66290205 (GRCh37)
Canonical SPDI:: NC_000011.10:66522733:A:G
Gene:: BBS1 (Varview), ZDHHC24 (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=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66522734A>G, NC_000011.9:g.66290205A>G, NG_009093.1:g.17087A>G

Select item 149022672812.

rs1490226728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66526895 (GRCh38)
11:66294366 (GRCh37)
Canonical SPDI:: NC_000011.10:66526894:G:A
Gene:: BBS1 (Varview), ZDHHC24 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.66526895G>A, NC_000011.9:g.66294366G>A, NG_009093.1:g.21248G>A

Select item 149018421513.

rs1490184215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66518950 (GRCh38)
11:66286421 (GRCh37)
Canonical SPDI:: NC_000011.10:66518949:T:C
Gene:: BBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.66518950T>C, NC_000011.9:g.66286421T>C, NG_009093.1:g.13303T>C

Select item 148973736814.

rs1489737368 has merged into rs1253574957 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AAAAA [Show Flanks]
Chromosome:: 11:66525367 (GRCh38)
11:66292838 (GRCh37)
Canonical SPDI:: NC_000011.10:66525363:AAAAAAA:AAA,NC_000011.10:66525363:AAAAAAA:AAAAAAAA
Gene:: BBS1 (Varview), ZDHHC24 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000011.10:g.66525367_66525370del, NC_000011.10:g.66525370dup, NC_000011.9:g.66292838_66292841del, NC_000011.9:g.66292841dup, NG_009093.1:g.19720_19723del, NG_009093.1:g.19723dup

Select item 148967458715.

rs1489674587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66523751 (GRCh38)
11:66291222 (GRCh37)
Canonical SPDI:: NC_000011.10:66523750:C:T
Gene:: BBS1 (Varview), ZDHHC24 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66523751C>T, NC_000011.9:g.66291222C>T, NG_009093.1:g.18104C>T, NM_024649.5:c.979C>T, NM_024649.4:c.979C>T, NP_078925.3:p.Pro327Ser

Select item 148946874016.

rs1489468740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66532031 (GRCh38)
11:66299502 (GRCh37)
Canonical SPDI:: NC_000011.10:66532030:C:T
Gene:: BBS1 (Varview), ZDHHC24 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000018/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66532031C>T, NC_000011.9:g.66299502C>T, NG_009093.1:g.26384C>T, NM_024649.5:c.1776C>T, NM_024649.4:c.1776C>T

Select item 148935832817.

rs1489358328 [Homo sapiens]

Variant type:: DEL
Alleles:: GGCCCCATT>- [Show Flanks]
Chromosome:: 11:66515646 (GRCh38)
11:66283117 (GRCh37)
Canonical SPDI:: NC_000011.10:66515645:GGCCCCATT:
Gene:: BBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66515646_66515654del, NC_000011.9:g.66283117_66283125del, NG_009093.1:g.9999_10007del

Select item 148925175418.

rs1489251754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66528687 (GRCh38)
11:66296158 (GRCh37)
Canonical SPDI:: NC_000011.10:66528686:G:A
Gene:: BBS1 (Varview), ZDHHC24 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.66528687G>A, NC_000011.9:g.66296158G>A, NG_009093.1:g.23040G>A, XM_047426709.1:c.*380C>T, XR_007062470.1:n.1406C>T, XR_007062471.1:n.1406C>T

Select item 148902672619.

rs1489026726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66525236 (GRCh38)
11:66292707 (GRCh37)
Canonical SPDI:: NC_000011.10:66525235:G:A
Gene:: BBS1 (Varview), ZDHHC24 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66525236G>A, NC_000011.9:g.66292707G>A, NG_009093.1:g.19589G>A

Select item 148884598820.

rs1488845988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66508902 (GRCh38)
11:66276373 (GRCh37)
Canonical SPDI:: NC_000011.10:66508901:C:T
Gene:: BBS1 (Varview), DPP3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66508902C>T, NC_000011.9:g.66276373C>T, NG_032068.1:g.33494C>T, NG_009093.1:g.3255C>T

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