SNP Links for Gene (Select 128864) - SNP

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Select item 14910042261.

rs1491004226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:33663605 (GRCh38)
20:32251411 (GRCh37)
Canonical SPDI:: NC_000020.11:33663604:C:G,NC_000020.11:33663604:C:T
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.33663605C>G, NC_000020.11:g.33663605C>T, NC_000020.10:g.32251411C>G, NC_000020.10:g.32251411C>T, NM_080825.4:c.200C>G, NM_080825.4:c.200C>T, NM_080825.3:c.200C>G, NM_080825.3:c.200C>T, XM_011528991.2:c.-1521G>C, XM_011528991.2:c.-1521G>A, NP_543015.1:p.Ala67Gly, NP_543015.1:p.Ala67Val

Select item 14901774042.

rs1490177404 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:33662973 (GRCh38)
20:32250779 (GRCh37)
Canonical SPDI:: NC_000020.11:33662969:AGAGA:AGA
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.000108/2 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000057/8 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000020.11:g.33662971GA[1], NC_000020.10:g.32250777GA[1], XM_011528991.2:c.-889CT[1]

Select item 14901224763.

rs1490122476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33661953 (GRCh38)
20:32249759 (GRCh37)
Canonical SPDI:: NC_000020.11:33661952:A:G
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33661953A>G, NC_000020.10:g.32249759A>G

Select item 14898030094.

rs1489803009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33662435 (GRCh38)
20:32250241 (GRCh37)
Canonical SPDI:: NC_000020.11:33662434:A:G
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.33662435A>G, NC_000020.10:g.32250241A>G, NM_080825.4:c.90A>G, NM_080825.3:c.90A>G, XM_011528991.2:c.-351T>C

Select item 14891085245.

rs1489108524 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:33660619 (GRCh38)
20:32248425 (GRCh37)
Canonical SPDI:: NC_000020.11:33660618:AG:
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.33660619_33660620del, NC_000020.10:g.32248425_32248426del

Select item 14890684706.

rs1489068470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:33663671 (GRCh38)
20:32251477 (GRCh37)
Canonical SPDI:: NC_000020.11:33663670:G:A,NC_000020.11:33663670:G:T
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000020.11:g.33663671G>A, NC_000020.11:g.33663671G>T, NC_000020.10:g.32251477G>A, NC_000020.10:g.32251477G>T, NM_080825.4:c.266G>A, NM_080825.4:c.266G>T, NM_080825.3:c.266G>A, NM_080825.3:c.266G>T, XM_011528991.2:c.-1587C>T, XM_011528991.2:c.-1587C>A, NP_543015.1:p.Arg89His, NP_543015.1:p.Arg89Leu

Select item 14871784157.

rs1487178415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:33661039 (GRCh38)
20:32248845 (GRCh37)
Canonical SPDI:: NC_000020.11:33661038:C:G
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33661039C>G, NC_000020.10:g.32248845C>G

Select item 14870440418.

rs1487044041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33661656 (GRCh38)
20:32249462 (GRCh37)
Canonical SPDI:: NC_000020.11:33661655:C:T
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000020.11:g.33661656C>T, NC_000020.10:g.32249462C>T

Select item 14841006919.

rs1484100691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33663454 (GRCh38)
20:32251260 (GRCh37)
Canonical SPDI:: NC_000020.11:33663453:G:A
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33663454G>A, NC_000020.10:g.32251260G>A, XM_011528991.2:c.-1370C>T

Select item 148386631210.

rs1483866312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33663204 (GRCh38)
20:32251010 (GRCh37)
Canonical SPDI:: NC_000020.11:33663203:G:A
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33663204G>A, NC_000020.10:g.32251010G>A, XM_011528991.2:c.-1120C>T

Select item 148288515611.

rs1482885156 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:33663517 (GRCh38)
20:32251323 (GRCh37)
Canonical SPDI:: NC_000020.11:33663516:CT:
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.33663517_33663518del, NC_000020.10:g.32251323_32251324del, XM_011528991.2:c.-1434_-1433del

Select item 148278136512.

rs1482781365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33664025 (GRCh38)
20:32251831 (GRCh37)
Canonical SPDI:: NC_000020.11:33664024:C:T
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_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_000020.11:g.33664025C>T, NC_000020.10:g.32251831C>T

Select item 148187974413.

rs1481879744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33660342 (GRCh38)
20:32248148 (GRCh37)
Canonical SPDI:: NC_000020.11:33660341:C:T
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.33660342C>T, NC_000020.10:g.32248148C>T, NM_031232.4:c.441G>A, NM_031232.3:c.441G>A, NM_031231.4:c.441G>A, NM_031231.3:c.441G>A, XM_011528992.3:c.441G>A, XM_011528992.2:c.441G>A, XM_011528992.1:c.441G>A, XM_011528991.2:c.-74G>A, XM_011528991.1:c.-74G>A, XM_017028016.2:c.-74G>A, XM_017028016.1:c.-74G>A, XM_047440369.1:c.72G>A, XM_047440370.1:c.72G>A, XM_005260510.1:c.441G>A

Select item 148099194814.

rs1480991948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:33661587 (GRCh38)
20:32249393 (GRCh37)
Canonical SPDI:: NC_000020.11:33661586:T:C
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.33661587T>C, NC_000020.10:g.32249393T>C

Select item 148089657015.

rs1480896570 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:33661839 (GRCh38)
20:32249646 (GRCh37)
Canonical SPDI:: NC_000020.11:33661839:GGGG:GGGGG
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000020.11:g.33661843dup, NC_000020.10:g.32249649dup

Select item 148000561016.

rs1480005610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33663824 (GRCh38)
20:32251630 (GRCh37)
Canonical SPDI:: NC_000020.11:33663823:A:G
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000020.11:g.33663824A>G, NC_000020.10:g.32251630A>G, NM_080825.4:c.419A>G, NM_080825.3:c.419A>G, NP_543015.1:p.Glu140Gly

Select item 147872284317.

rs1478722843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:33663753 (GRCh38)
20:32251559 (GRCh37)
Canonical SPDI:: NC_000020.11:33663752:G:T
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000020.11:g.33663753G>T, NC_000020.10:g.32251559G>T, NM_080825.4:c.348G>T, NM_080825.3:c.348G>T

Select item 147786686618.

rs1477866866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:33664358 (GRCh38)
20:32252164 (GRCh37)
Canonical SPDI:: NC_000020.11:33664357:C:A
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33664358C>A, NC_000020.10:g.32252164C>A

Select item 147772110519.

rs1477721105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:33660706 (GRCh38)
20:32248512 (GRCh37)
Canonical SPDI:: NC_000020.11:33660705:G:A,NC_000020.11:33660705:G:C
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000020.11:g.33660706G>A, NC_000020.11:g.33660706G>C, NC_000020.10:g.32248512G>A, NC_000020.10:g.32248512G>C

Select item 147702764120.

rs1477027641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:33663814 (GRCh38)
20:32251620 (GRCh37)
Canonical SPDI:: NC_000020.11:33663813:C:A,NC_000020.11:33663813:C:T
Gene:: NECAB3 (Varview), C20orf144 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33663814C>A, NC_000020.11:g.33663814C>T, NC_000020.10:g.32251620C>A, NC_000020.10:g.32251620C>T, NM_080825.4:c.409C>A, NM_080825.4:c.409C>T, NM_080825.3:c.409C>A, NM_080825.3:c.409C>T, NP_543015.1:p.Pro137Thr, NP_543015.1:p.Pro137Ser

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