SNP Links for Gene (Select 100131378) - SNP

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Select item 14909064441.

rs1490906444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:33699233 (GRCh38)
11:33720779 (GRCh37)
Canonical SPDI:: NC_000011.10:33699232:G:A
Gene:: C11orf91 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33699233G>A, NC_000011.9:g.33720779G>A

Select item 14896988612.

rs1489698861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33697817 (GRCh38)
11:33719363 (GRCh37)
Canonical SPDI:: NC_000011.10:33697816:C:T
Gene:: C11orf91 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.33697817C>T, NC_000011.9:g.33719363C>T

Select item 14890270703.

rs1489027070 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCT [Show Flanks]
Chromosome:: 11:33703584 (GRCh38)
11:33725131 (GRCh37)
Canonical SPDI:: NC_000011.10:33703584:TAGCT:TAGCTAGCT
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGCTAGCT=0./0 (ALFA)
TAGC=0.000004/1 (TOPMED)
TAGC=0.000057/8 (GnomAD)
HGVS:: NC_000011.10:g.33703586_33703589dup, NC_000011.9:g.33725132_33725135dup, NG_008057.1:g.37891_37894dup, NM_000611.6:c.*6538_*6541dup, NM_000611.5:c.*6538_*6541dup, NM_203329.3:c.*6538_*6541dup, NM_203329.2:c.*6538_*6541dup, NM_203331.3:c.*6538_*6541dup, NM_203331.2:c.*6538_*6541dup, NM_203330.2:c.*6538_*6541dup, NM_001127225.2:c.*6538_*6541dup, NM_001127225.1:c.*6538_*6541dup, NM_001127226.2:c.*6538_*6541dup, NM_001127226.1:c.*6538_*6541dup, NM_001127227.2:c.*6538_*6541dup, NM_001127227.1:c.*6538_*6541dup, NM_001127223.1:c.*6538_*6541dup, XM_017017053.2:c.-1447_-1444dup

Select item 14885675234.

rs1488567523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:33704880 (GRCh38)
11:33726426 (GRCh37)
Canonical SPDI:: NC_000011.10:33704879:A:G
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33704880A>G, NC_000011.9:g.33726426A>G, NG_008057.1:g.36599T>C, NM_000611.6:c.*5246T>C, NM_000611.5:c.*5246T>C, NM_203329.3:c.*5246T>C, NM_203329.2:c.*5246T>C, NM_203331.3:c.*5246T>C, NM_203331.2:c.*5246T>C, NM_203330.2:c.*5246T>C, NM_001127225.2:c.*5246T>C, NM_001127225.1:c.*5246T>C, NM_001127226.2:c.*5246T>C, NM_001127226.1:c.*5246T>C, NM_001127227.2:c.*5246T>C, NM_001127227.1:c.*5246T>C, NM_001127223.1:c.*5246T>C, XM_017017053.2:c.-2739T>C

Select item 14884056675.

rs1488405667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:33701182 (GRCh38)
11:33722728 (GRCh37)
Canonical SPDI:: NC_000011.10:33701181:A:C,NC_000011.10:33701181:A:G
Gene:: C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000011.10:g.33701182A>C, NC_000011.10:g.33701182A>G, NC_000011.9:g.33722728A>C, NC_000011.9:g.33722728A>G, NG_008057.1:g.40297T>G, NG_008057.1:g.40297T>C, XM_017017053.2:c.-442T>G, XM_017017053.2:c.-442T>C, XM_017017053.1:c.-442T>G, XM_017017053.1:c.-442T>C

Select item 14883794076.

rs1488379407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:33703561 (GRCh38)
11:33725107 (GRCh37)
Canonical SPDI:: NC_000011.10:33703560:T:C
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.33703561T>C, NC_000011.9:g.33725107T>C, NG_008057.1:g.37918A>G, NM_000611.6:c.*6565A>G, NM_000611.5:c.*6565A>G, NM_203329.3:c.*6565A>G, NM_203329.2:c.*6565A>G, NM_203331.3:c.*6565A>G, NM_203331.2:c.*6565A>G, NM_203330.2:c.*6565A>G, NM_001127225.2:c.*6565A>G, NM_001127225.1:c.*6565A>G, NM_001127226.2:c.*6565A>G, NM_001127226.1:c.*6565A>G, NM_001127227.2:c.*6565A>G, NM_001127227.1:c.*6565A>G, NM_001127223.1:c.*6565A>G, XM_017017053.2:c.-1420A>G

Select item 14880708637.

rs1488070863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:33700377 (GRCh38)
11:33721923 (GRCh37)
Canonical SPDI:: NC_000011.10:33700376:G:T
Gene:: C11orf91 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33700377G>T, NC_000011.9:g.33721923G>T, XM_017017053.2:c.364C>A, XM_017017053.1:c.364C>A, NM_001166692.2:c.364C>A, NM_001166692.1:c.364C>A, XP_016872542.1:p.Pro122Thr, NP_001160164.1:p.Pro122Thr

Select item 14880492548.

rs1488049254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:33702573 (GRCh38)
11:33724119 (GRCh37)
Canonical SPDI:: NC_000011.10:33702572:T:C
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000049/13 (TOPMED)
C=0.000071/10 (GnomAD)
HGVS:: NC_000011.10:g.33702573T>C, NC_000011.9:g.33724119T>C, NG_008057.1:g.38906A>G

Select item 14878766369.

rs1487876636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:33702942 (GRCh38)
11:33724488 (GRCh37)
Canonical SPDI:: NC_000011.10:33702941:A:T
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.33702942A>T, NC_000011.9:g.33724488A>T, NG_008057.1:g.38537T>A, XM_017017053.2:c.-801T>A, XM_017017053.1:c.-801T>A

Select item 148755089610.

rs1487550896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:33703391 (GRCh38)
11:33724937 (GRCh37)
Canonical SPDI:: NC_000011.10:33703390:C:G
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.33703391C>G, NC_000011.9:g.33724937C>G, NG_008057.1:g.38088G>C, NM_000611.6:c.*6735G>C, NM_000611.5:c.*6735G>C, NM_203329.3:c.*6735G>C, NM_203329.2:c.*6735G>C, NM_203331.3:c.*6735G>C, NM_203331.2:c.*6735G>C, NM_203330.2:c.*6735G>C, NM_001127225.2:c.*6735G>C, NM_001127225.1:c.*6735G>C, NM_001127226.2:c.*6735G>C, NM_001127226.1:c.*6735G>C, NM_001127227.2:c.*6735G>C, NM_001127227.1:c.*6735G>C, NM_001127223.1:c.*6735G>C, XM_017017053.2:c.-1250G>C

Select item 148695225711.

rs1486952257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:33702934 (GRCh38)
11:33724480 (GRCh37)
Canonical SPDI:: NC_000011.10:33702933:A:G,NC_000011.10:33702933:A:T
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.33702934A>G, NC_000011.10:g.33702934A>T, NC_000011.9:g.33724480A>G, NC_000011.9:g.33724480A>T, NG_008057.1:g.38545T>C, NG_008057.1:g.38545T>A, XM_017017053.2:c.-793T>C, XM_017017053.2:c.-793T>A, XM_017017053.1:c.-793T>C, XM_017017053.1:c.-793T>A

Select item 148664586012.

rs1486645860 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:33697949 (GRCh38)
11:33719495 (GRCh37)
Canonical SPDI:: NC_000011.10:33697948:A:C,NC_000011.10:33697948:A:G
Gene:: C11orf91 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000283/5 (TOMMO)
HGVS:: NC_000011.10:g.33697949A>C, NC_000011.10:g.33697949A>G, NC_000011.9:g.33719495A>C, NC_000011.9:g.33719495A>G

Select item 148507934413.

rs1485079344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:33701379 (GRCh38)
11:33722925 (GRCh37)
Canonical SPDI:: NC_000011.10:33701378:T:C
Gene:: C11orf91 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000011.10:g.33701379T>C, NC_000011.9:g.33722925T>C, NG_008057.1:g.40100A>G

Select item 148361515814.

rs1483615158 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 11:33699981 (GRCh38)
11:33721528 (GRCh37)
Canonical SPDI:: NC_000011.10:33699981:AGAG:AGAGAG
Gene:: C11orf91 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0.000071/1 (ALFA)
AG=0.000007/1 (GnomAD)
AG=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.33699982AG[3], NC_000011.9:g.33721528AG[3]

Select item 148318970715.

rs1483189707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33700557 (GRCh38)
11:33722103 (GRCh37)
Canonical SPDI:: NC_000011.10:33700556:C:T
Gene:: C11orf91 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33700557C>T, NC_000011.9:g.33722103C>T, XM_017017053.2:c.184G>A, XM_017017053.1:c.184G>A, NM_001166692.2:c.184G>A, NM_001166692.1:c.184G>A, XP_016872542.1:p.Ala62Thr, NP_001160164.1:p.Ala62Thr

Select item 148295826516.

rs1482958265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:33699004 (GRCh38)
11:33720550 (GRCh37)
Canonical SPDI:: NC_000011.10:33699003:G:A,NC_000011.10:33699003:G:T
Gene:: C11orf91 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.33699004G>A, NC_000011.10:g.33699004G>T, NC_000011.9:g.33720550G>A, NC_000011.9:g.33720550G>T

Select item 148286799917.

rs1482867999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:33700626 (GRCh38)
11:33722172 (GRCh37)
Canonical SPDI:: NC_000011.10:33700625:A:G
Gene:: C11orf91 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.33700626A>G, NC_000011.9:g.33722172A>G, XM_017017053.2:c.115T>C, XM_017017053.1:c.115T>C, NM_001166692.2:c.115T>C, NM_001166692.1:c.115T>C, XP_016872542.1:p.Phe39Leu, NP_001160164.1:p.Phe39Leu

Select item 148222022918.

rs1482220229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:33703053 (GRCh38)
11:33724599 (GRCh37)
Canonical SPDI:: NC_000011.10:33703052:A:G
Gene:: CD59 (Varview), C11orf91 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.33703053A>G, NC_000011.9:g.33724599A>G, NG_008057.1:g.38426T>C, NM_000611.6:c.*7073T>C, NM_000611.5:c.*7073T>C, NM_203329.3:c.*7073T>C, NM_203329.2:c.*7073T>C, NM_203331.3:c.*7073T>C, NM_203331.2:c.*7073T>C, NM_203330.2:c.*7073T>C, NM_001127225.2:c.*7073T>C, NM_001127225.1:c.*7073T>C, NM_001127226.2:c.*7073T>C, NM_001127226.1:c.*7073T>C, NM_001127227.2:c.*7073T>C, NM_001127227.1:c.*7073T>C, NM_001127223.1:c.*7073T>C, XM_017017053.2:c.-912T>C

Select item 148188780119.

rs1481887801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:33700281 (GRCh38)
11:33721827 (GRCh37)
Canonical SPDI:: NC_000011.10:33700280:G:A
Gene:: C11orf91 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000015/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.33700281G>A, NC_000011.9:g.33721827G>A, XM_017017053.2:c.460C>T, XM_017017053.1:c.460C>T, NM_001166692.2:c.460C>T, NM_001166692.1:c.460C>T, XP_016872542.1:p.Leu154Phe, NP_001160164.1:p.Leu154Phe

Select item 148178137620.

rs1481781376 [Homo sapiens]

Variant type:: DEL
Alleles:: TTG>- [Show Flanks]
Chromosome:: 11:33698797 (GRCh38)
11:33720343 (GRCh37)
Canonical SPDI:: NC_000011.10:33698796:TTG:
Gene:: C11orf91 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00057/16 (TOMMO)
HGVS:: NC_000011.10:g.33698797_33698799del, NC_000011.9:g.33720343_33720345del

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