SNP Links for Gene (Select 79780) - SNP

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Select item 14914924301.

rs1491492430 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATATATTTATATATATA [Show Flanks]
Chromosome:: 11:96372700 (GRCh38)
11:96105865 (GRCh37)
Canonical SPDI:: NC_000011.10:96372700:TATATATATACATATATATTTATATATATA:TATATATATACATATATATTTATATATATACATATATATTTATATATATA
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATATACATATATATTTATATATATACATATATATTTATATATATA=0./0 (ALFA)
TATATATATACATATATATT=0.000016/2 (GnomAD)
HGVS:: NC_000011.10:g.96372711_96372730dup, NC_000011.9:g.96105875_96105894dup

Select item 14913535282.

rs1491353528 has merged into rs139619843 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAGAGGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:96359652 (GRCh38)
11:96092816 (GRCh37)
Canonical SPDI:: NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAGGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:96359642:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC82 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.96359652_96359665del, NC_000011.10:g.96359659_96359665del, NC_000011.10:g.96359660_96359665del, NC_000011.10:g.96359661_96359665del, NC_000011.10:g.96359662_96359665del, NC_000011.10:g.96359663_96359665del, NC_000011.10:g.96359664_96359665del, NC_000011.10:g.96359665del, NC_000011.10:g.96359665dup, NC_000011.10:g.96359664_96359665dup, NC_000011.10:g.96359663_96359665dup, NC_000011.10:g.96359662_96359665dup, NC_000011.10:g.96359661_96359665dup, NC_000011.10:g.96359660_96359665dup, NC_000011.10:g.96359659_96359665dup, NC_000011.10:g.96359658_96359665dup, NC_000011.10:g.96359657_96359665dup, NC_000011.10:g.96359656_96359665dup, NC_000011.10:g.96359655_96359665dup, NC_000011.10:g.96359653_96359665dup, NC_000011.10:g.96359650_96359665dup, NC_000011.10:g.96359648_96359665dup, NC_000011.10:g.96359665_96359666insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.96359665_96359666insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.96359665_96359666insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.96359665_96359666insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.96359643_96359665A[25]GAAAAAAAAGAGGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.96359643_96359665A[25]GAAAAAAAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.96359643_96359665A[24]TGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.96092816_96092829del, NC_000011.9:g.96092823_96092829del, NC_000011.9:g.96092824_96092829del, NC_000011.9:g.96092825_96092829del, NC_000011.9:g.96092826_96092829del, NC_000011.9:g.96092827_96092829del, NC_000011.9:g.96092828_96092829del, NC_000011.9:g.96092829del, NC_000011.9:g.96092829dup, NC_000011.9:g.96092828_96092829dup, NC_000011.9:g.96092827_96092829dup, NC_000011.9:g.96092826_96092829dup, NC_000011.9:g.96092825_96092829dup, NC_000011.9:g.96092824_96092829dup, NC_000011.9:g.96092823_96092829dup, NC_000011.9:g.96092822_96092829dup, NC_000011.9:g.96092821_96092829dup, NC_000011.9:g.96092820_96092829dup, NC_000011.9:g.96092819_96092829dup, NC_000011.9:g.96092817_96092829dup, NC_000011.9:g.96092814_96092829dup, NC_000011.9:g.96092812_96092829dup, NC_000011.9:g.96092829_96092830insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.96092829_96092830insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.96092829_96092830insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.96092829_96092830insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.96092807_96092829A[25]GAAAAAAAAGAGGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.96092807_96092829A[25]GAAAAAAAGAAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.96092807_96092829A[24]TGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14912507513.

rs1491250751 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:96359641 (GRCh38)
11:96092806 (GRCh37)
Canonical SPDI:: NC_000011.10:96359641:T:TT
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00042/4 (GnomAD)
HGVS:: NC_000011.10:g.96359642dup, NC_000011.9:g.96092806dup

Select item 14912370594.

rs1491237059 has merged into rs869243950 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 11:96360205 (GRCh38)
11:96093369 (GRCh37)
Canonical SPDI:: NC_000011.10:96360198:TTTTTTTT:TTTTTT,NC_000011.10:96360198:TTTTTTTT:TTTTTTT,NC_000011.10:96360198:TTTTTTTT:TTTTTTTTT,NC_000011.10:96360198:TTTTTTTT:TTTTTTTTTT
Gene:: CCDC82 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
-=0.001982/32 (TOMMO)
-=0.004525/8 (Korea1K)
HGVS:: NC_000011.10:g.96360205_96360206del, NC_000011.10:g.96360206del, NC_000011.10:g.96360206dup, NC_000011.10:g.96360205_96360206dup, NC_000011.9:g.96093369_96093370del, NC_000011.9:g.96093370del, NC_000011.9:g.96093370dup, NC_000011.9:g.96093369_96093370dup

Select item 14912277925.

rs1491227792 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:96389729 (GRCh38)
11:96122894 (GRCh37)
Canonical SPDI:: NC_000011.10:96389729:C:CC
Gene:: JRKL (Varview), CCDC82 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.96389730dup, NC_000011.9:g.96122894dup, XM_011542984.4:c.-1174dup, XM_011542984.3:c.-1174dup, NM_001363594.2:c.-1174dup, NM_001363594.1:c.-1174dup, XM_017018307.2:c.-588dup, XM_017018307.1:c.-588dup, XM_024448690.2:c.-504dup, XM_024448690.1:c.-504dup, XM_047427607.1:c.-3575dup, XM_047427606.1:c.-504dup, XM_047427604.1:c.-3808dup, XM_047427602.1:c.-3491dup, XM_047427603.1:c.-2339dup, XM_047427605.1:c.-2215dup, NM_014148.1:c.49dup

Select item 14912036806.

rs1491203680 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:96359642 (GRCh38)
11:96092806 (GRCh37)
Canonical SPDI:: NC_000011.10:96359641:TA:
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.01391/165 (ALFA)
HGVS:: NC_000011.10:g.96359642_96359643del, NC_000011.9:g.96092806_96092807del

Select item 14911817697.

rs1491181769 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:96389732 (GRCh38)
11:96122896 (GRCh37)
Canonical SPDI:: NC_000011.10:96389728:TCTCT:TCT
Gene:: JRKL (Varview), CCDC82 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000011.10:g.96389730CT[1], NC_000011.9:g.96122894CT[1], XM_011542984.4:c.-1176GA[1], XM_011542984.3:c.-1176GA[1], NM_001363594.2:c.-1176GA[1], NM_001363594.1:c.-1176GA[1], XM_017018307.2:c.-590GA[1], XM_017018307.1:c.-590GA[1], XM_024448690.2:c.-506GA[1], XM_024448690.1:c.-506GA[1], XM_047427607.1:c.-3577GA[1], XM_047427606.1:c.-506GA[1], XM_047427604.1:c.-3810GA[1], XM_047427602.1:c.-3493GA[1], XM_047427603.1:c.-2341GA[1], XM_047427605.1:c.-2217GA[1], NM_014148.1:c.49_50del

Select item 14910621198.

rs1491062119 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:96386073 (GRCh38)
11:96119237 (GRCh37)
Canonical SPDI:: NC_000011.10:96386072:AA:
Gene:: CCDC82 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
-=0.000071/1 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.96386073_96386074del, NC_000011.9:g.96119237_96119238del, XM_047427604.1:c.-152_-151del

Select item 14910367059.

rs1491036705 has merged into rs145911994 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 11:96377371 (GRCh38)
11:96110535 (GRCh37)
Canonical SPDI:: NC_000011.10:96377357:ACACACACACACACACACACA:ACACACACACACA,NC_000011.10:96377357:ACACACACACACACACACACA:ACACACACACACACA,NC_000011.10:96377357:ACACACACACACACACACACA:ACACACACACACACACA,NC_000011.10:96377357:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000011.10:96377357:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000011.10:96377357:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000011.10:96377357:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000011.10:96377357:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA
Gene:: CCDC82 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACACACACA=0./0 (ALFA)
-=0.3289/1647 (1000Genomes)
HGVS:: NC_000011.10:g.96377359CA[6], NC_000011.10:g.96377359CA[7], NC_000011.10:g.96377359CA[8], NC_000011.10:g.96377359CA[9], NC_000011.10:g.96377359CA[11], NC_000011.10:g.96377359CA[12], NC_000011.10:g.96377359CA[13], NC_000011.10:g.96377359CA[14], NC_000011.9:g.96110523CA[6], NC_000011.9:g.96110523CA[7], NC_000011.9:g.96110523CA[8], NC_000011.9:g.96110523CA[9], NC_000011.9:g.96110523CA[11], NC_000011.9:g.96110523CA[12], NC_000011.9:g.96110523CA[13], NC_000011.9:g.96110523CA[14]

Select item 149090879710.

rs1490908797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:96377038 (GRCh38)
11:96110202 (GRCh37)
Canonical SPDI:: NC_000011.10:96377037:G:C
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.96377038G>C, NC_000011.9:g.96110202G>C

Select item 149088136211.

rs1490881362 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:96361744 (GRCh38)
11:96094908 (GRCh37)
Canonical SPDI:: NC_000011.10:96361743:GG:G
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.96361745del, NC_000011.9:g.96094909del

Select item 149073346812.

rs1490733468 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATATTTTTGTCA [Show Flanks]
Chromosome:: 11:96377478 (GRCh38)
11:96110643 (GRCh37)
Canonical SPDI:: NC_000011.10:96377478:AAATATTTTTGTCA:AAATATTTTTGTCAAATATTTTTGTCA
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATATTTTTGTCAAATATTTTTGTCA=0./0 (ALFA)
AAATATTTTTGTC=0.000004/1 (TOPMED)
AAATATTTTTGTC=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.96377480_96377492dup, NC_000011.9:g.96110644_96110656dup

Select item 149068742713.

rs1490687427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:96383436 (GRCh38)
11:96116600 (GRCh37)
Canonical SPDI:: NC_000011.10:96383435:A:G,NC_000011.10:96383435:A:T
Gene:: CCDC82 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.96383436A>G, NC_000011.10:g.96383436A>T, NC_000011.9:g.96116600A>G, NC_000011.9:g.96116600A>T, XM_011542984.4:c.824T>C, XM_011542984.4:c.824T>A, XM_011542984.3:c.824T>C, XM_011542984.3:c.824T>A, XM_011542984.2:c.824T>C, XM_011542984.2:c.824T>A, XM_011542984.1:c.824T>C, XM_011542984.1:c.824T>A, XM_011542987.4:c.824T>C, XM_011542987.4:c.824T>A, XM_011542987.3:c.824T>C, XM_011542987.3:c.824T>A, XM_011542987.2:c.824T>C, XM_011542987.2:c.824T>A, XM_011542987.1:c.824T>C, XM_011542987.1:c.824T>A, NM_024725.4:c.824T>C, NM_024725.4:c.824T>A, NM_024725.3:c.824T>C, NM_024725.3:c.824T>A, XM_011542988.4:c.824T>C, XM_011542988.4:c.824T>A, XM_011542988.3:c.824T>C, XM_011542988.3:c.824T>A, XM_011542988.2:c.824T>C, XM_011542988.2:c.824T>A, XM_011542988.1:c.824T>C, XM_011542988.1:c.824T>A, XM_005274292.4:c.824T>C, XM_005274292.4:c.824T>A, XM_005274292.3:c.824T>C, XM_005274292.3:c.824T>A, XM_005274292.2:c.824T>C, XM_005274292.2:c.824T>A, XM_005274292.1:c.824T>C, XM_005274292.1:c.824T>A, NM_001318737.3:c.824T>C, NM_001318737.3:c.824T>A, NM_001318737.2:c.824T>C, NM_001318737.2:c.824T>A, NM_001318737.1:c.824T>C, NM_001318737.1:c.824T>A, XM_024448693.2:c.824T>C, XM_024448693.2:c.824T>A, XM_024448693.1:c.824T>C, XM_024448693.1:c.824T>A, XM_017018310.2:c.824T>C, XM_017018310.2:c.824T>A, XM_017018310.1:c.824T>C, XM_017018310.1:c.824T>A, NM_001363594.2:c.755T>C, NM_001363594.2:c.755T>A, NM_001363594.1:c.755T>C, NM_001363594.1:c.755T>A, XM_017018307.2:c.824T>C, XM_017018307.2:c.824T>A, XM_017018307.1:c.824T>C, XM_017018307.1:c.824T>A, XM_024448690.2:c.824T>C, XM_024448690.2:c.824T>A, XM_024448690.1:c.824T>C, XM_024448690.1:c.824T>A, NM_001318736.2:c.824T>C, NM_001318736.2:c.824T>A, NM_001318736.1:c.824T>C, NM_001318736.1:c.824T>A, XM_047427607.1:c.824T>C, XM_047427607.1:c.824T>A, XM_047427606.1:c.824T>C, XM_047427606.1:c.824T>A, XM_047427604.1:c.824T>C, XM_047427604.1:c.824T>A, XM_047427602.1:c.824T>C, XM_047427602.1:c.824T>A, XM_047427603.1:c.824T>C, XM_047427603.1:c.824T>A, XM_047427605.1:c.824T>C, XM_047427605.1:c.824T>A, XP_011541286.1:p.Val275Ala, XP_011541286.1:p.Val275Asp, XP_011541289.1:p.Val275Ala, XP_011541289.1:p.Val275Asp, NP_079001.2:p.Val275Ala, NP_079001.2:p.Val275Asp, XP_011541290.1:p.Val275Ala, XP_011541290.1:p.Val275Asp, XP_005274349.1:p.Val275Ala, XP_005274349.1:p.Val275Asp, NP_001305666.1:p.Val275Ala, NP_001305666.1:p.Val275Asp, XP_024304461.1:p.Val275Ala, XP_024304461.1:p.Val275Asp, XP_016873799.1:p.Val275Ala, XP_016873799.1:p.Val275Asp, NP_001350523.1:p.Val252Ala, NP_001350523.1:p.Val252Asp, XP_016873796.1:p.Val275Ala, XP_016873796.1:p.Val275Asp, XP_024304458.1:p.Val275Ala, XP_024304458.1:p.Val275Asp, NP_001305665.1:p.Val275Ala, NP_001305665.1:p.Val275Asp, XP_047283563.1:p.Val275Ala, XP_047283563.1:p.Val275Asp, XP_047283562.1:p.Val275Ala, XP_047283562.1:p.Val275Asp, XP_047283560.1:p.Val275Ala, XP_047283560.1:p.Val275Asp, XP_047283558.1:p.Val275Ala, XP_047283558.1:p.Val275Asp, XP_047283559.1:p.Val275Ala, XP_047283559.1:p.Val275Asp, XP_047283561.1:p.Val275Ala, XP_047283561.1:p.Val275Asp

Select item 149057070114.

rs1490570701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:96377123 (GRCh38)
11:96110287 (GRCh37)
Canonical SPDI:: NC_000011.10:96377122:T:C,NC_000011.10:96377122:T:G
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.96377123T>C, NC_000011.10:g.96377123T>G, NC_000011.9:g.96110287T>C, NC_000011.9:g.96110287T>G

Select item 149043043515.

rs1490430435 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:96368862 (GRCh38)
11:96102027 (GRCh37)
Canonical SPDI:: NC_000011.10:96368862:C:CC
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00102/13 (GnomAD)
HGVS:: NC_000011.10:g.96368863dup, NC_000011.9:g.96102027dup

Select item 149040309416.

rs1490403094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:96354750 (GRCh38)
11:96087914 (GRCh37)
Canonical SPDI:: NC_000011.10:96354749:G:A
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.96354750G>A, NC_000011.9:g.96087914G>A, XM_024448693.2:c.*3822C>T, XM_024448693.1:c.*3822C>T, XM_017018310.2:c.*3822C>T, XM_017018310.1:c.*3822C>T, XM_047427607.1:c.*3822C>T, XM_047427606.1:c.*3822C>T

Select item 149038618617.

rs1490386186 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:96372072 (GRCh38)
11:96105236 (GRCh37)
Canonical SPDI:: NC_000011.10:96372067:CTCTCT:CTCT
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.96372068CT[2], NC_000011.9:g.96105232CT[2]

Select item 149017252918.

rs1490172529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:96390669 (GRCh38)
11:96123833 (GRCh37)
Canonical SPDI:: NC_000011.10:96390668:G:A
Gene:: JRKL (Varview), CCDC82 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.96390669G>A, NC_000011.9:g.96123833G>A, NM_003772.4:c.20G>A, NM_003772.3:c.20G>A, NM_001261833.2:c.20G>A, NM_001261833.1:c.20G>A, NP_003763.2:p.Arg7His, NP_001248762.1:p.Arg7His

Select item 149012855719.

rs1490128557 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:96387390 (GRCh38)
11:96120554 (GRCh37)
Canonical SPDI:: NC_000011.10:96387387:CACA:CA
Gene:: CCDC82 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.96387388CA[1], NC_000011.9:g.96120552CA[1], XM_047427607.1:c.-1236TG[1], XM_047427604.1:c.-1469TG[1], XM_047427602.1:c.-1152TG[1]

Select item 149009874320.

rs1490098743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:96356851 (GRCh38)
11:96090015 (GRCh37)
Canonical SPDI:: NC_000011.10:96356850:A:G
Gene:: CCDC82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000011.10:g.96356851A>G, NC_000011.9:g.96090015A>G, XM_024448693.2:c.*1721T>C, XM_024448693.1:c.*1721T>C, XM_017018310.2:c.*1721T>C, XM_017018310.1:c.*1721T>C, XM_047427607.1:c.*1721T>C, XM_047427606.1:c.*1721T>C

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