SNP Links for Gene (Select 377677) - SNP

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Select item 14914504691.

rs1491450469 has merged into rs33933991 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:85258771 (GRCh38)
8:86171000 (GRCh37)
Canonical SPDI:: NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85258759:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAA=0.05/2 (GENOME_DK)
HGVS:: NC_000008.11:g.85258771_85258788del, NC_000008.11:g.85258772_85258788del, NC_000008.11:g.85258773_85258788del, NC_000008.11:g.85258774_85258788del, NC_000008.11:g.85258775_85258788del, NC_000008.11:g.85258776_85258788del, NC_000008.11:g.85258777_85258788del, NC_000008.11:g.85258778_85258788del, NC_000008.11:g.85258779_85258788del, NC_000008.11:g.85258780_85258788del, NC_000008.11:g.85258781_85258788del, NC_000008.11:g.85258782_85258788del, NC_000008.11:g.85258783_85258788del, NC_000008.11:g.85258785_85258788del, NC_000008.11:g.85258786_85258788del, NC_000008.11:g.85258787_85258788del, NC_000008.11:g.85258788del, NC_000008.11:g.85258788dup, NC_000008.11:g.85258787_85258788dup, NC_000008.11:g.85258786_85258788dup, NC_000008.11:g.85258785_85258788dup, NC_000008.11:g.85258784_85258788dup, NC_000008.11:g.85258783_85258788dup, NC_000008.11:g.85258782_85258788dup, NC_000008.11:g.85258781_85258788dup, NC_000008.11:g.85258780_85258788dup, NC_000008.11:g.85258779_85258788dup, NC_000008.11:g.85258776_85258788dup, NC_000008.10:g.86171000_86171017del, NC_000008.10:g.86171001_86171017del, NC_000008.10:g.86171002_86171017del, NC_000008.10:g.86171003_86171017del, NC_000008.10:g.86171004_86171017del, NC_000008.10:g.86171005_86171017del, NC_000008.10:g.86171006_86171017del, NC_000008.10:g.86171007_86171017del, NC_000008.10:g.86171008_86171017del, NC_000008.10:g.86171009_86171017del, NC_000008.10:g.86171010_86171017del, NC_000008.10:g.86171011_86171017del, NC_000008.10:g.86171012_86171017del, NC_000008.10:g.86171014_86171017del, NC_000008.10:g.86171015_86171017del, NC_000008.10:g.86171016_86171017del, NC_000008.10:g.86171017del, NC_000008.10:g.86171017dup, NC_000008.10:g.86171016_86171017dup, NC_000008.10:g.86171015_86171017dup, NC_000008.10:g.86171014_86171017dup, NC_000008.10:g.86171013_86171017dup, NC_000008.10:g.86171012_86171017dup, NC_000008.10:g.86171011_86171017dup, NC_000008.10:g.86171010_86171017dup, NC_000008.10:g.86171009_86171017dup, NC_000008.10:g.86171008_86171017dup, NC_000008.10:g.86171005_86171017dup

Select item 14913293402.

rs1491329340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 8:85258760 (GRCh38)
8:86170990 (GRCh37)
Canonical SPDI:: NC_000008.11:85258760:A:AGA
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000008.11:g.85258761_85258762insGA, NC_000008.10:g.86170990_86170991insGA

Select item 14910159043.

rs1491015904 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:85263713 (GRCh38)
8:86175943 (GRCh37)
Canonical SPDI:: NC_000008.11:85263713:T:TT
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.85263714dup, NC_000008.10:g.86175943dup

Select item 14909168004.

rs1490916800 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATA>- [Show Flanks]
Chromosome:: 8:85246855 (GRCh38)
8:86159084 (GRCh37)
Canonical SPDI:: NC_000008.11:85246851:ATACATA:ATA
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.85246855_85246858del, NC_000008.10:g.86159084_86159087del

Select item 14905665855.

rs1490566585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:85269359 (GRCh38)
8:86181588 (GRCh37)
Canonical SPDI:: NC_000008.11:85269358:G:A,NC_000008.11:85269358:G:C
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.85269359G>A, NC_000008.11:g.85269359G>C, NC_000008.10:g.86181588G>A, NC_000008.10:g.86181588G>C

Select item 14905412496.

rs1490541249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:85276174 (GRCh38)
8:86188403 (GRCh37)
Canonical SPDI:: NC_000008.11:85276173:C:A,NC_000008.11:85276173:C:T
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.85276174C>A, NC_000008.11:g.85276174C>T, NC_000008.10:g.86188403C>A, NC_000008.10:g.86188403C>T

Select item 14904253377.

rs1490425337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:85248055 (GRCh38)
8:86160284 (GRCh37)
Canonical SPDI:: NC_000008.11:85248054:C:T
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.85248055C>T, NC_000008.10:g.86160284C>T

Select item 14903933788.

rs1490393378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:85252619 (GRCh38)
8:86164848 (GRCh37)
Canonical SPDI:: NC_000008.11:85252618:G:C
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.85252619G>C, NC_000008.10:g.86164848G>C

Select item 14903620779.

rs1490362077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:85251660 (GRCh38)
8:86163889 (GRCh37)
Canonical SPDI:: NC_000008.11:85251659:A:T
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.85251660A>T, NC_000008.10:g.86163889A>T

Select item 149035878610.

rs1490358786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:85267191 (GRCh38)
8:86179420 (GRCh37)
Canonical SPDI:: NC_000008.11:85267190:C:G,NC_000008.11:85267190:C:T
Gene:: CA13 (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_000008.11:g.85267191C>G, NC_000008.11:g.85267191C>T, NC_000008.10:g.86179420C>G, NC_000008.10:g.86179420C>T

Select item 149033198511.

rs1490331985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85282739 (GRCh38)
8:86194968 (GRCh37)
Canonical SPDI:: NC_000008.11:85282738:T:C
Gene:: CA13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.85282739T>C, NC_000008.10:g.86194968T>C, NM_198584.3:c.*1390T>C, NM_198584.2:c.*1390T>C

Select item 149019945912.

rs1490199459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:85251150 (GRCh38)
8:86163379 (GRCh37)
Canonical SPDI:: NC_000008.11:85251149:C:T
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000008.11:g.85251150C>T, NC_000008.10:g.86163379C>T

Select item 149011061613.

rs1490110616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:85244698 (GRCh38)
8:86156927 (GRCh37)
Canonical SPDI:: NC_000008.11:85244697:T:A
Gene:: CA13 (Varview), LOC105375936 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.85244698T>A, NC_000008.10:g.86156927T>A

Select item 149010922614.

rs1490109226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:85257918 (GRCh38)
8:86170147 (GRCh37)
Canonical SPDI:: NC_000008.11:85257917:C:G
Gene:: CA13 (Varview)
Functional Consequence:: 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_000008.11:g.85257918C>G, NC_000008.10:g.86170147C>G

Select item 149007648215.

rs1490076482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:85270784 (GRCh38)
8:86183013 (GRCh37)
Canonical SPDI:: NC_000008.11:85270783:A:C
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.85270784A>C, NC_000008.10:g.86183013A>C

Select item 148999825816.

rs1489998258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:85258545 (GRCh38)
8:86170774 (GRCh37)
Canonical SPDI:: NC_000008.11:85258544:A:G
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.85258545A>G, NC_000008.10:g.86170774A>G

Select item 148993277117.

rs1489932771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:85249169 (GRCh38)
8:86161398 (GRCh37)
Canonical SPDI:: NC_000008.11:85249168:T:G
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.85249169T>G, NC_000008.10:g.86161398T>G

Select item 148987677418.

rs1489876774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:85251668 (GRCh38)
8:86163897 (GRCh37)
Canonical SPDI:: NC_000008.11:85251667:C:G,NC_000008.11:85251667:C:T
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.85251668C>G, NC_000008.11:g.85251668C>T, NC_000008.10:g.86163897C>G, NC_000008.10:g.86163897C>T

Select item 148973497819.

rs1489734978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:85245932 (GRCh38)
8:86158161 (GRCh37)
Canonical SPDI:: NC_000008.11:85245931:G:A,NC_000008.11:85245931:G:C
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.85245932G>A, NC_000008.11:g.85245932G>C, NC_000008.10:g.86158161G>A, NC_000008.10:g.86158161G>C

Select item 148966378420.

rs1489663784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:85275947 (GRCh38)
8:86188176 (GRCh37)
Canonical SPDI:: NC_000008.11:85275946:G:A
Gene:: CA13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.85275947G>A, NC_000008.10:g.86188176G>A

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