SNP Links for Gene (Select 958) - SNP

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Select item 14912154421.

rs1491215442 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:46125546 (GRCh38)
20:44754185 (GRCh37)
Canonical SPDI:: NC_000020.11:46125545:CA:
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00514/61 (ALFA)
-=0.0004/11 (TOMMO)
HGVS:: NC_000020.11:g.46125546_46125547del, NC_000020.10:g.44754185_44754186del, NG_007279.1:g.12280_12281del

Select item 14911657062.

rs1491165706 has merged into rs60475326 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:46125557 (GRCh38)
20:44754196 (GRCh37)
Canonical SPDI:: NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46125546:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.46125557_46125571del, NC_000020.11:g.46125558_46125571del, NC_000020.11:g.46125559_46125571del, NC_000020.11:g.46125561_46125571del, NC_000020.11:g.46125562_46125571del, NC_000020.11:g.46125564_46125571del, NC_000020.11:g.46125565_46125571del, NC_000020.11:g.46125566_46125571del, NC_000020.11:g.46125567_46125571del, NC_000020.11:g.46125568_46125571del, NC_000020.11:g.46125569_46125571del, NC_000020.11:g.46125570_46125571del, NC_000020.11:g.46125571del, NC_000020.11:g.46125571dup, NC_000020.11:g.46125570_46125571dup, NC_000020.11:g.46125569_46125571dup, NC_000020.11:g.46125568_46125571dup, NC_000020.11:g.46125567_46125571dup, NC_000020.11:g.46125566_46125571dup, NC_000020.11:g.46125565_46125571dup, NC_000020.11:g.46125571_46125572insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.46125571_46125572insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.44754196_44754210del, NC_000020.10:g.44754197_44754210del, NC_000020.10:g.44754198_44754210del, NC_000020.10:g.44754200_44754210del, NC_000020.10:g.44754201_44754210del, NC_000020.10:g.44754203_44754210del, NC_000020.10:g.44754204_44754210del, NC_000020.10:g.44754205_44754210del, NC_000020.10:g.44754206_44754210del, NC_000020.10:g.44754207_44754210del, NC_000020.10:g.44754208_44754210del, NC_000020.10:g.44754209_44754210del, NC_000020.10:g.44754210del, NC_000020.10:g.44754210dup, NC_000020.10:g.44754209_44754210dup, NC_000020.10:g.44754208_44754210dup, NC_000020.10:g.44754207_44754210dup, NC_000020.10:g.44754206_44754210dup, NC_000020.10:g.44754205_44754210dup, NC_000020.10:g.44754204_44754210dup, NC_000020.10:g.44754210_44754211insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.44754210_44754211insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007279.1:g.12291_12305del, NG_007279.1:g.12292_12305del, NG_007279.1:g.12293_12305del, NG_007279.1:g.12295_12305del, NG_007279.1:g.12296_12305del, NG_007279.1:g.12298_12305del, NG_007279.1:g.12299_12305del, NG_007279.1:g.12300_12305del, NG_007279.1:g.12301_12305del, NG_007279.1:g.12302_12305del, NG_007279.1:g.12303_12305del, NG_007279.1:g.12304_12305del, NG_007279.1:g.12305del, NG_007279.1:g.12305dup, NG_007279.1:g.12304_12305dup, NG_007279.1:g.12303_12305dup, NG_007279.1:g.12302_12305dup, NG_007279.1:g.12301_12305dup, NG_007279.1:g.12300_12305dup, NG_007279.1:g.12299_12305dup, NG_007279.1:g.12305_12306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007279.1:g.12305_12306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910669363.

rs1491066936 has merged into rs199882694 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:46117015 (GRCh38)
20:44745654 (GRCh37)
Canonical SPDI:: NC_000020.11:46117008:TTTTTTTTTTTTT:TTTTTT,NC_000020.11:46117008:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:46117008:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:46117008:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:46117008:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:46117008:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:46117008:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:46117008:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: CD40 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.14257/714 (1000Genomes)
T=0.2/8 (GENOME_DK)
HGVS:: NC_000020.11:g.46117015_46117021del, NC_000020.11:g.46117019_46117021del, NC_000020.11:g.46117020_46117021del, NC_000020.11:g.46117021del, NC_000020.11:g.46117021dup, NC_000020.11:g.46117020_46117021dup, NC_000020.11:g.46117018_46117021dup, NC_000020.11:g.46117014_46117021dup, NC_000020.10:g.44745654_44745660del, NC_000020.10:g.44745658_44745660del, NC_000020.10:g.44745659_44745660del, NC_000020.10:g.44745660del, NC_000020.10:g.44745660dup, NC_000020.10:g.44745659_44745660dup, NC_000020.10:g.44745657_44745660dup, NC_000020.10:g.44745653_44745660dup, NG_007279.1:g.3749_3755del, NG_007279.1:g.3753_3755del, NG_007279.1:g.3754_3755del, NG_007279.1:g.3755del, NG_007279.1:g.3755dup, NG_007279.1:g.3754_3755dup, NG_007279.1:g.3752_3755dup, NG_007279.1:g.3748_3755dup

Select item 14907486994.

rs1490748699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:46123077 (GRCh38)
20:44751716 (GRCh37)
Canonical SPDI:: NC_000020.11:46123076:C:G
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46123077C>G, NC_000020.10:g.44751716C>G, NG_007279.1:g.9811C>G

Select item 14904919475.

rs1490491947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:46128212 (GRCh38)
20:44756851 (GRCh37)
Canonical SPDI:: NC_000020.11:46128211:C:G
Gene:: CD40 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.46128212C>G, NC_000020.10:g.44756851C>G, NG_007279.1:g.14946C>G, NM_001250.6:c.634C>G, NM_001250.5:c.634C>G, NM_001250.4:c.634C>G, NM_152854.4:c.572C>G, NM_152854.3:c.572C>G, NM_152854.2:c.572C>G, NM_001302753.2:c.674C>G, NM_001302753.1:c.674C>G, NM_001322421.2:c.634C>G, NM_001322421.1:c.634C>G, NR_126502.2:n.667C>G, NR_126502.1:n.727C>G, NM_001362758.2:c.634C>G, NM_001362758.1:c.634C>G, NR_136327.2:n.570C>G, NR_136327.1:n.630C>G, NM_001322422.2:c.478C>G, NM_001322422.1:c.478C>G, XM_005260619.4:c.478C>G, XM_005260619.3:c.478C>G, XM_005260619.2:c.478C>G, XM_005260619.1:c.478C>G, XM_017028135.2:c.674C>G, XM_017028135.1:c.674C>G, XM_017028136.2:c.572C>G, XM_017028136.1:c.572C>G, XM_047440601.1:c.209C>G, NP_001241.1:p.Leu212Val, NP_690593.1:p.Ala191Gly, NP_001289682.1:p.Ala225Gly, NP_001309350.1:p.Leu212Val, NP_001349687.1:p.Leu212Val, NP_001309351.1:p.Leu160Val, XP_005260676.1:p.Leu160Val, XP_016883624.1:p.Ala225Gly, XP_016883625.1:p.Ala191Gly, XP_047296557.1:p.Ala70Gly

Select item 14903454116.

rs1490345411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:46129750 (GRCh38)
20:44758389 (GRCh37)
Canonical SPDI:: NC_000020.11:46129749:T:C
Gene:: CD40 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.46129750T>C, NC_000020.10:g.44758389T>C, NG_007279.1:g.16484T>C, NM_001250.6:c.*710T>C, NM_152854.4:c.*870T>C, NM_001302753.2:c.*870T>C, NM_001322421.2:c.*710T>C, NR_126502.2:n.1577T>C, NM_001362758.2:c.*870T>C, NR_136327.2:n.1480T>C, NM_001322422.2:c.*710T>C, XM_005260619.4:c.*710T>C, XM_017028135.2:c.*607T>C, XM_017028136.2:c.*607T>C, XM_047440601.1:c.*607T>C

Select item 14900796977.

rs1490079697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46123356 (GRCh38)
20:44751995 (GRCh37)
Canonical SPDI:: NC_000020.11:46123355:C:T
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.46123356C>T, NC_000020.10:g.44751995C>T, NG_007279.1:g.10090C>T

Select item 14900009488.

rs1490000948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46128533 (GRCh38)
20:44757172 (GRCh37)
Canonical SPDI:: NC_000020.11:46128532:C:T
Gene:: CD40 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.46128533C>T, NC_000020.10:g.44757172C>T, NG_007279.1:g.15267C>T

Select item 14899694169.

rs1489969416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:46124254 (GRCh38)
20:44752893 (GRCh37)
Canonical SPDI:: NC_000020.11:46124253:A:T
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.46124254A>T, NC_000020.10:g.44752893A>T, NG_007279.1:g.10988A>T

Select item 148994630910.

rs1489946309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:46122789 (GRCh38)
20:44751428 (GRCh37)
Canonical SPDI:: NC_000020.11:46122788:G:A
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000020.11:g.46122789G>A, NC_000020.10:g.44751428G>A, NG_007279.1:g.9523G>A

Select item 148982056011.

rs1489820560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:46124600 (GRCh38)
20:44753239 (GRCh37)
Canonical SPDI:: NC_000020.11:46124599:T:C
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.46124600T>C, NC_000020.10:g.44753239T>C, NG_007279.1:g.11334T>C

Select item 148966091512.

rs1489660915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:46120108 (GRCh38)
20:44748747 (GRCh37)
Canonical SPDI:: NC_000020.11:46120107:C:A
Gene:: CD40 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46120108C>A, NC_000020.10:g.44748747C>A, NG_007279.1:g.6842C>A

Select item 148941643813.

rs1489416438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:46123734 (GRCh38)
20:44752373 (GRCh37)
Canonical SPDI:: NC_000020.11:46123733:C:A,NC_000020.11:46123733:C:T
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46123734C>A, NC_000020.11:g.46123734C>T, NC_000020.10:g.44752373C>A, NC_000020.10:g.44752373C>T, NG_007279.1:g.10468C>A, NG_007279.1:g.10468C>T

Select item 148909681714.

rs1489096817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:46129761 (GRCh38)
20:44758400 (GRCh37)
Canonical SPDI:: NC_000020.11:46129760:G:C
Gene:: CD40 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46129761G>C, NC_000020.10:g.44758400G>C, NG_007279.1:g.16495G>C, NM_001250.6:c.*721G>C, NM_152854.4:c.*881G>C, NM_001302753.2:c.*881G>C, NM_001322421.2:c.*721G>C, NR_126502.2:n.1588G>C, NM_001362758.2:c.*881G>C, NR_136327.2:n.1491G>C, NM_001322422.2:c.*721G>C, XM_005260619.4:c.*721G>C, XM_017028135.2:c.*618G>C, XM_017028136.2:c.*618G>C, XM_047440601.1:c.*618G>C

Select item 148879272715.

rs1488792727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:46128922 (GRCh38)
20:44757561 (GRCh37)
Canonical SPDI:: NC_000020.11:46128921:C:A
Gene:: CD40 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.46128922C>A, NC_000020.10:g.44757561C>A, NG_007279.1:g.15656C>A, NM_001250.6:c.716C>A, NM_001250.5:c.716C>A, NM_001250.4:c.716C>A, NM_152854.4:c.*42C>A, NM_152854.3:c.*42C>A, NM_152854.2:c.*42C>A, NM_001302753.2:c.*42C>A, NM_001302753.1:c.*42C>A, NM_001322421.2:c.728C>A, NM_001322421.1:c.728C>A, NR_126502.2:n.749C>A, NR_126502.1:n.809C>A, NM_001362758.2:c.*42C>A, NM_001362758.1:c.*42C>A, NR_136327.2:n.652C>A, NR_136327.1:n.712C>A, NM_001322422.2:c.560C>A, NM_001322422.1:c.560C>A, XM_005260619.4:c.572C>A, XM_005260619.3:c.572C>A, XM_005260619.2:c.572C>A, XM_005260619.1:c.572C>A, XM_017028135.2:c.751C>A, XM_017028135.1:c.751C>A, XM_017028136.2:c.649C>A, XM_017028136.1:c.649C>A, XM_047440601.1:c.286C>A, NP_001241.1:p.Pro239His, NP_001309350.1:p.Pro243His, NP_001309351.1:p.Pro187His, XP_005260676.1:p.Pro191His, XP_016883624.1:p.Pro251Thr, XP_016883625.1:p.Pro217Thr, XP_047296557.1:p.Pro96Thr

Select item 148872882016.

rs1488728820 has merged into rs780015926 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:46124763 (GRCh38)
20:44753402 (GRCh37)
Canonical SPDI:: NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:46124751:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000020.11:g.46124763_46124784del, NC_000020.11:g.46124764_46124784del, NC_000020.11:g.46124765_46124784del, NC_000020.11:g.46124766_46124784del, NC_000020.11:g.46124767_46124784del, NC_000020.11:g.46124768_46124784del, NC_000020.11:g.46124769_46124784del, NC_000020.11:g.46124770_46124784del, NC_000020.11:g.46124771_46124784del, NC_000020.11:g.46124772_46124784del, NC_000020.11:g.46124773_46124784del, NC_000020.11:g.46124774_46124784del, NC_000020.11:g.46124775_46124784del, NC_000020.11:g.46124776_46124784del, NC_000020.11:g.46124777_46124784del, NC_000020.11:g.46124778_46124784del, NC_000020.11:g.46124779_46124784del, NC_000020.11:g.46124780_46124784del, NC_000020.11:g.46124781_46124784del, NC_000020.11:g.46124782_46124784del, NC_000020.11:g.46124783_46124784del, NC_000020.11:g.46124784del, NC_000020.11:g.46124784dup, NC_000020.11:g.46124783_46124784dup, NC_000020.11:g.46124782_46124784dup, NC_000020.11:g.46124781_46124784dup, NC_000020.11:g.46124780_46124784dup, NC_000020.11:g.46124779_46124784dup, NC_000020.11:g.46124778_46124784dup, NC_000020.11:g.46124777_46124784dup, NC_000020.11:g.46124776_46124784dup, NC_000020.11:g.46124775_46124784dup, NC_000020.11:g.46124774_46124784dup, NC_000020.11:g.46124773_46124784dup, NC_000020.11:g.46124772_46124784dup, NC_000020.11:g.46124771_46124784dup, NC_000020.11:g.46124770_46124784dup, NC_000020.11:g.46124769_46124784dup, NC_000020.11:g.46124768_46124784dup, NC_000020.11:g.46124767_46124784dup, NC_000020.11:g.46124766_46124784dup, NC_000020.11:g.46124765_46124784dup, NC_000020.11:g.46124764_46124784dup, NC_000020.11:g.46124763_46124784dup, NC_000020.11:g.46124762_46124784dup, NC_000020.11:g.46124760_46124784dup, NC_000020.11:g.46124755_46124784dup, NC_000020.11:g.46124784_46124785insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.44753402_44753423del, NC_000020.10:g.44753403_44753423del, NC_000020.10:g.44753404_44753423del, NC_000020.10:g.44753405_44753423del, NC_000020.10:g.44753406_44753423del, NC_000020.10:g.44753407_44753423del, NC_000020.10:g.44753408_44753423del, NC_000020.10:g.44753409_44753423del, NC_000020.10:g.44753410_44753423del, NC_000020.10:g.44753411_44753423del, NC_000020.10:g.44753412_44753423del, NC_000020.10:g.44753413_44753423del, NC_000020.10:g.44753414_44753423del, NC_000020.10:g.44753415_44753423del, NC_000020.10:g.44753416_44753423del, NC_000020.10:g.44753417_44753423del, NC_000020.10:g.44753418_44753423del, NC_000020.10:g.44753419_44753423del, NC_000020.10:g.44753420_44753423del, NC_000020.10:g.44753421_44753423del, NC_000020.10:g.44753422_44753423del, NC_000020.10:g.44753423del, NC_000020.10:g.44753423dup, NC_000020.10:g.44753422_44753423dup, NC_000020.10:g.44753421_44753423dup, NC_000020.10:g.44753420_44753423dup, NC_000020.10:g.44753419_44753423dup, NC_000020.10:g.44753418_44753423dup, NC_000020.10:g.44753417_44753423dup, NC_000020.10:g.44753416_44753423dup, NC_000020.10:g.44753415_44753423dup, NC_000020.10:g.44753414_44753423dup, NC_000020.10:g.44753413_44753423dup, NC_000020.10:g.44753412_44753423dup, NC_000020.10:g.44753411_44753423dup, NC_000020.10:g.44753410_44753423dup, NC_000020.10:g.44753409_44753423dup, NC_000020.10:g.44753408_44753423dup, NC_000020.10:g.44753407_44753423dup, NC_000020.10:g.44753406_44753423dup, NC_000020.10:g.44753405_44753423dup, NC_000020.10:g.44753404_44753423dup, NC_000020.10:g.44753403_44753423dup, NC_000020.10:g.44753402_44753423dup, NC_000020.10:g.44753401_44753423dup, NC_000020.10:g.44753399_44753423dup, NC_000020.10:g.44753394_44753423dup, NC_000020.10:g.44753423_44753424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007279.1:g.11497_11518del, NG_007279.1:g.11498_11518del, NG_007279.1:g.11499_11518del, NG_007279.1:g.11500_11518del, NG_007279.1:g.11501_11518del, NG_007279.1:g.11502_11518del, NG_007279.1:g.11503_11518del, NG_007279.1:g.11504_11518del, NG_007279.1:g.11505_11518del, NG_007279.1:g.11506_11518del, NG_007279.1:g.11507_11518del, NG_007279.1:g.11508_11518del, NG_007279.1:g.11509_11518del, NG_007279.1:g.11510_11518del, NG_007279.1:g.11511_11518del, NG_007279.1:g.11512_11518del, NG_007279.1:g.11513_11518del, NG_007279.1:g.11514_11518del, NG_007279.1:g.11515_11518del, NG_007279.1:g.11516_11518del, NG_007279.1:g.11517_11518del, NG_007279.1:g.11518del, NG_007279.1:g.11518dup, NG_007279.1:g.11517_11518dup, NG_007279.1:g.11516_11518dup, NG_007279.1:g.11515_11518dup, NG_007279.1:g.11514_11518dup, NG_007279.1:g.11513_11518dup, NG_007279.1:g.11512_11518dup, NG_007279.1:g.11511_11518dup, NG_007279.1:g.11510_11518dup, NG_007279.1:g.11509_11518dup, NG_007279.1:g.11508_11518dup, NG_007279.1:g.11507_11518dup, NG_007279.1:g.11506_11518dup, NG_007279.1:g.11505_11518dup, NG_007279.1:g.11504_11518dup, NG_007279.1:g.11503_11518dup, NG_007279.1:g.11502_11518dup, NG_007279.1:g.11501_11518dup, NG_007279.1:g.11500_11518dup, NG_007279.1:g.11499_11518dup, NG_007279.1:g.11498_11518dup, NG_007279.1:g.11497_11518dup, NG_007279.1:g.11496_11518dup, NG_007279.1:g.11494_11518dup, NG_007279.1:g.11489_11518dup, NG_007279.1:g.11518_11519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148862533417.

rs1488625334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:46127447 (GRCh38)
20:44756086 (GRCh37)
Canonical SPDI:: NC_000020.11:46127446:A:G
Gene:: CD40 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_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_000020.11:g.46127447A>G, NC_000020.10:g.44756086A>G, NG_007279.1:g.14181A>G

Select item 148859317618.

rs1488593176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:46130158 (GRCh38)
20:44758797 (GRCh37)
Canonical SPDI:: NC_000020.11:46130157:G:A
Gene:: CD40 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.46130158G>A, NC_000020.10:g.44758797G>A, NG_007279.1:g.16892G>A

Select item 148819604319.

rs1488196043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:46116928 (GRCh38)
20:44745567 (GRCh37)
Canonical SPDI:: NC_000020.11:46116927:G:A,NC_000020.11:46116927:G:C
Gene:: CD40 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.46116928G>A, NC_000020.11:g.46116928G>C, NC_000020.10:g.44745567G>A, NC_000020.10:g.44745567G>C, NG_007279.1:g.3662G>A, NG_007279.1:g.3662G>C

Select item 148789121720.

rs1487891217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 20:46126151 (GRCh38)
20:44754790 (GRCh37)
Canonical SPDI:: NC_000020.11:46126150:T:A,NC_000020.11:46126150:T:G
Gene:: CD40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000020.11:g.46126151T>A, NC_000020.11:g.46126151T>G, NC_000020.10:g.44754790T>A, NC_000020.10:g.44754790T>G, NG_007279.1:g.12885T>A, NG_007279.1:g.12885T>G

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