SNP Links for Gene (Select 143684) - SNP

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Select item 14915799091.

rs1491579909 has merged into rs958478450 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:95774205 (GRCh38)
11:95507370 (GRCh37)
Canonical SPDI:: NC_000011.10:95774205:A:AA
Gene:: FAM76B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.95774206dup, NC_000011.9:g.95507370dup

Select item 14913155002.

rs1491315500 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:95787239 (GRCh38)
11:95520403 (GRCh37)
Canonical SPDI:: NC_000011.10:95787238:GT:
Gene:: FAM76B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.95787239_95787240del, NC_000011.9:g.95520403_95520404del, NG_029829.1:g.1779_1780del

Select item 14911943153.

rs1491194315 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:95781435 (GRCh38)
11:95514600 (GRCh37)
Canonical SPDI:: NC_000011.10:95781435:AAAAAAA:AAAAAAAA
Gene:: FAM76B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.95781442dup, NC_000011.9:g.95514606dup

Select item 14911762474.

rs1491176247 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:95778786 (GRCh38)
11:95511950 (GRCh37)
Canonical SPDI:: NC_000011.10:95778784:ATA:A
Gene:: FAM76B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00001/2 (GnomAD_exomes)
-=0.000017/2 (ExAC)
HGVS:: NC_000011.10:g.95778786_95778787del, NC_000011.9:g.95511950_95511951del

Select item 14907738975.

rs1490773897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:95792348 (GRCh38)
11:95525512 (GRCh37)
Canonical SPDI:: NC_000011.10:95792347:A:T
Gene:: CEP57 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.95792348A>T, NC_000011.9:g.95525512A>T, NG_029829.1:g.6888A>T

Select item 14907037646.

rs1490703764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:95781648 (GRCh38)
11:95514812 (GRCh37)
Canonical SPDI:: NC_000011.10:95781647:G:T
Gene:: FAM76B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.95781648G>T, NC_000011.9:g.95514812G>T

Select item 14906888997.

rs1490688899 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:95782457 (GRCh38)
11:95515622 (GRCh37)
Canonical SPDI:: NC_000011.10:95782457:GGGGG:GGGGGG
Gene:: FAM76B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.95782462dup, NC_000011.9:g.95515626dup

Select item 14905751138.

rs1490575113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:95778516 (GRCh38)
11:95511680 (GRCh37)
Canonical SPDI:: NC_000011.10:95778515:A:C
Gene:: FAM76B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000011.10:g.95778516A>C, NC_000011.9:g.95511680A>C

Select item 14904902429.

rs1490490242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:95788219 (GRCh38)
11:95521383 (GRCh37)
Canonical SPDI:: NC_000011.10:95788218:T:A,NC_000011.10:95788218:T:C
Gene:: FAM76B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000011.10:g.95788219T>A, NC_000011.10:g.95788219T>C, NC_000011.9:g.95521383T>A, NC_000011.9:g.95521383T>C, NG_029829.1:g.2759T>A, NG_029829.1:g.2759T>C

Select item 149022333410.

rs1490223334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:95789538 (GRCh38)
11:95522702 (GRCh37)
Canonical SPDI:: NC_000011.10:95789537:C:A
Gene:: CEP57 (Varview), FAM76B (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.95789538C>A, NC_000011.9:g.95522702C>A, NG_029829.1:g.4078C>A, NM_144664.5:c.-60G>T, NM_144664.4:c.-60G>T, XM_011542610.3:c.-296G>T, NM_001330357.2:c.-60G>T, NM_001330357.1:c.-60G>T, XM_047426410.1:c.-217G>T, XM_047426412.1:c.-60G>T, XM_047426413.1:c.-60G>T, XR_007062451.1:n.245G>T

Select item 149017503211.

rs1490175032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:95776624 (GRCh38)
11:95509788 (GRCh37)
Canonical SPDI:: NC_000011.10:95776623:T:A
Gene:: FAM76B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.95776624T>A, NC_000011.9:g.95509788T>A

Select item 148996996412.

rs1489969964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:95783559 (GRCh38)
11:95516723 (GRCh37)
Canonical SPDI:: NC_000011.10:95783558:A:G
Gene:: FAM76B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.95783559A>G, NC_000011.9:g.95516723A>G

Select item 148989018313.

rs1489890183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:95769224 (GRCh38)
11:95502388 (GRCh37)
Canonical SPDI:: NC_000011.10:95769223:C:T
Gene:: FAM76B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.95769224C>T, NC_000011.9:g.95502388C>T, XM_005273776.5:c.*2337G>A, XM_005273776.4:c.*2337G>A, XM_005273776.3:c.*2337G>A, XM_005273776.2:c.*2337G>A, XM_005273776.1:c.*2337G>A, NM_144664.5:c.*2337G>A, NM_144664.4:c.*2337G>A, XM_011542610.3:c.*2337G>A, XM_011542610.2:c.*2337G>A, XM_011542610.1:c.*2337G>A, NM_001330357.2:c.*2337G>A, NM_001330357.1:c.*2337G>A, XM_011542612.2:c.*2337G>A, XM_011542612.1:c.*2337G>A, XM_047426411.1:c.*2337G>A, XM_047426410.1:c.*2337G>A

Select item 148987257514.

rs1489872575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:95782839 (GRCh38)
11:95516003 (GRCh37)
Canonical SPDI:: NC_000011.10:95782838:T:C
Gene:: FAM76B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.95782839T>C, NC_000011.9:g.95516003T>C

Select item 148922037115.

rs1489220371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:95787492 (GRCh38)
11:95520656 (GRCh37)
Canonical SPDI:: NC_000011.10:95787491:G:A
Gene:: FAM76B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.95787492G>A, NC_000011.9:g.95520656G>A, NG_029829.1:g.2032G>A

Select item 148919786216.

rs1489197862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:95768736 (GRCh38)
11:95501900 (GRCh37)
Canonical SPDI:: NC_000011.10:95768735:T:G
Gene:: FAM76B (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)
HGVS:: NC_000011.10:g.95768736T>G, NC_000011.9:g.95501900T>G

Select item 148916373217.

rs1489163732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:95773097 (GRCh38)
11:95506261 (GRCh37)
Canonical SPDI:: NC_000011.10:95773096:A:G
Gene:: FAM76B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.95773097A>G, NC_000011.9:g.95506261A>G

Select item 148911948718.

rs1489119487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:95786890 (GRCh38)
11:95520054 (GRCh37)
Canonical SPDI:: NC_000011.10:95786889:T:C
Gene:: FAM76B (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=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.95786890T>C, NC_000011.9:g.95520054T>C, NG_029829.1:g.1430T>C

Select item 148909353419.

rs1489093534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:95773239 (GRCh38)
11:95506403 (GRCh37)
Canonical SPDI:: NC_000011.10:95773238:A:T
Gene:: FAM76B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.95773239A>T, NC_000011.9:g.95506403A>T

Select item 148906396720.

rs1489063967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:95774081 (GRCh38)
11:95507245 (GRCh37)
Canonical SPDI:: NC_000011.10:95774080:C:A
Gene:: FAM76B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.95774081C>A, NC_000011.9:g.95507245C>A

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