SNP Links for Gene (Select 90288) - SNP

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Select item 14912968981.

rs1491296898 has merged into rs1236887523 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:129417342 (GRCh38)
3:129136185 (GRCh37)
Canonical SPDI:: NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129417341:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.129417353del, NC_000003.12:g.129417353dup, NC_000003.12:g.129417352_129417353dup, NC_000003.12:g.129417351_129417353dup, NC_000003.12:g.129417350_129417353dup, NC_000003.12:g.129417349_129417353dup, NC_000003.12:g.129417348_129417353dup, NC_000003.12:g.129417347_129417353dup, NC_000003.12:g.129417346_129417353dup, NC_000003.12:g.129417345_129417353dup, NC_000003.12:g.129417344_129417353dup, NC_000003.12:g.129417343_129417353dup, NC_000003.12:g.129417342_129417353dup, NC_000003.12:g.129417353_129417354insAAAAAAAAAAAAA, NC_000003.12:g.129417353_129417354insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.129136196del, NC_000003.11:g.129136196dup, NC_000003.11:g.129136195_129136196dup, NC_000003.11:g.129136194_129136196dup, NC_000003.11:g.129136193_129136196dup, NC_000003.11:g.129136192_129136196dup, NC_000003.11:g.129136191_129136196dup, NC_000003.11:g.129136190_129136196dup, NC_000003.11:g.129136189_129136196dup, NC_000003.11:g.129136188_129136196dup, NC_000003.11:g.129136187_129136196dup, NC_000003.11:g.129136186_129136196dup, NC_000003.11:g.129136185_129136196dup, NC_000003.11:g.129136196_129136197insAAAAAAAAAAAAA, NC_000003.11:g.129136196_129136197insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911997222.

rs1491199722 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:129417341 (GRCh38)
3:129136184 (GRCh37)
Canonical SPDI:: NC_000003.12:129417340:CA:
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
-=0.00008/8 (GnomAD)
HGVS:: NC_000003.12:g.129417341_129417342del, NC_000003.11:g.129136184_129136185del

Select item 14909344493.

rs1490934449 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:129427454 (GRCh38)
3:129146297 (GRCh37)
Canonical SPDI:: NC_000003.12:129427452:TCT:T
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.129427454_129427455del, NC_000003.11:g.129146297_129146298del

Select item 14908296404.

rs1490829640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129410236 (GRCh38)
3:129129079 (GRCh37)
Canonical SPDI:: NC_000003.12:129410235:C:T
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000003.12:g.129410236C>T, NC_000003.11:g.129129079C>T

Select item 14908070435.

rs1490807043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:129408901 (GRCh38)
3:129127744 (GRCh37)
Canonical SPDI:: NC_000003.12:129408900:G:T
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.129408901G>T, NC_000003.11:g.129127744G>T

Select item 14905875976.

rs1490587597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129414633 (GRCh38)
3:129133476 (GRCh37)
Canonical SPDI:: NC_000003.12:129414632:T:C
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.129414633T>C, NC_000003.11:g.129133476T>C

Select item 14905312767.

rs1490531276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129415816 (GRCh38)
3:129134659 (GRCh37)
Canonical SPDI:: NC_000003.12:129415815:C:T
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.129415816C>T, NC_000003.11:g.129134659C>T

Select item 14902111928.

rs1490211192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129406339 (GRCh38)
3:129125182 (GRCh37)
Canonical SPDI:: NC_000003.12:129406338:T:C
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.129406339T>C, NC_000003.11:g.129125182T>C

Select item 14901499249.

rs1490149924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:129428895 (GRCh38)
3:129147738 (GRCh37)
Canonical SPDI:: NC_000003.12:129428894:T:C,NC_000003.12:129428894:T:G
Gene:: EFCAB12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129428895T>C, NC_000003.12:g.129428895T>G, NC_000003.11:g.129147738T>C, NC_000003.11:g.129147738T>G

Select item 149008265810.

rs1490082658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129424510 (GRCh38)
3:129143353 (GRCh37)
Canonical SPDI:: NC_000003.12:129424509:C:T
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129424510C>T, NC_000003.11:g.129143353C>T

Select item 148983744911.

rs1489837449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:129421238 (GRCh38)
3:129140081 (GRCh37)
Canonical SPDI:: NC_000003.12:129421237:T:G
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129421238T>G, NC_000003.11:g.129140081T>G

Select item 148979838012.

rs1489798380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:129405356 (GRCh38)
3:129124199 (GRCh37)
Canonical SPDI:: NC_000003.12:129405355:G:A,NC_000003.12:129405355:G:T
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.129405356G>A, NC_000003.12:g.129405356G>T, NC_000003.11:g.129124199G>A, NC_000003.11:g.129124199G>T

Select item 148970039813.

rs1489700398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129404749 (GRCh38)
3:129123592 (GRCh37)
Canonical SPDI:: NC_000003.12:129404748:G:A
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.129404749G>A, NC_000003.11:g.129123592G>A

Select item 148955874414.

rs1489558744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129406609 (GRCh38)
3:129125452 (GRCh37)
Canonical SPDI:: NC_000003.12:129406608:C:T
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.129406609C>T, NC_000003.11:g.129125452C>T

Select item 148945673515.

rs1489456735 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:129404483 (GRCh38)
3:129123327 (GRCh37)
Canonical SPDI:: NC_000003.12:129404483:G:GG
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000547/1 (Korea1K)
HGVS:: NC_000003.12:g.129404484dup, NC_000003.11:g.129123327dup

Select item 148936795816.

rs1489367958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129407641 (GRCh38)
3:129126484 (GRCh37)
Canonical SPDI:: NC_000003.12:129407640:C:T
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.129407641C>T, NC_000003.11:g.129126484C>T

Select item 148917183917.

rs1489171839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129413606 (GRCh38)
3:129132449 (GRCh37)
Canonical SPDI:: NC_000003.12:129413605:G:A
Gene:: EFCAB12 (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_000003.12:g.129413606G>A, NC_000003.11:g.129132449G>A

Select item 148904717118.

rs1489047171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:129404659 (GRCh38)
3:129123502 (GRCh37)
Canonical SPDI:: NC_000003.12:129404658:G:A,NC_000003.12:129404658:G:T
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.129404659G>A, NC_000003.12:g.129404659G>T, NC_000003.11:g.129123502G>A, NC_000003.11:g.129123502G>T

Select item 148900637219.

rs1489006372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:129406563 (GRCh38)
3:129125406 (GRCh37)
Canonical SPDI:: NC_000003.12:129406562:T:A
Gene:: EFCAB12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.129406563T>A, NC_000003.11:g.129125406T>A

Select item 148893527620.

rs1488935276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:129404196 (GRCh38)
3:129123039 (GRCh37)
Canonical SPDI:: NC_000003.12:129404195:G:T
Gene:: EFCAB12 (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_000003.12:g.129404196G>T, NC_000003.11:g.129123039G>T

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