SNP Links for Gene (Select 124930) - SNP

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Select item 14913832851.

rs1491383285 has merged into rs397857705 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 17:29605415 (GRCh38)
17:27932433 (GRCh37)
Canonical SPDI:: NC_000017.11:29605413:AAA:A,NC_000017.11:29605413:AAA:AAAA
Gene:: ANKRD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.00019/24 (GnomAD)
HGVS:: NC_000017.11:g.29605415_29605416del, NC_000017.11:g.29605416dup, NC_000017.10:g.27932433_27932434del, NC_000017.10:g.27932434dup

Select item 14911802012.

rs1491180201 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:29605414 (GRCh38)
17:27932433 (GRCh37)
Canonical SPDI:: NC_000017.11:29605414::C
Gene:: ANKRD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000435/55 (GnomAD)
HGVS:: NC_000017.11:g.29605414_29605415insC, NC_000017.10:g.27932432_27932433insC

Select item 14909502873.

rs1490950287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29594386 (GRCh38)
17:27921404 (GRCh37)
Canonical SPDI:: NC_000017.11:29594385:G:A
Gene:: ANKRD13B (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_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_000017.11:g.29594386G>A, NC_000017.10:g.27921404G>A, XM_011524319.4:c.-143G>A, XM_011524319.3:c.-143G>A, XM_011524319.2:c.-143G>A, XM_047435325.1:c.-143G>A

Select item 14908714944.

rs1490871494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29606666 (GRCh38)
17:27933684 (GRCh37)
Canonical SPDI:: NC_000017.11:29606665:G:A
Gene:: ANKRD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.29606666G>A, NC_000017.10:g.27933684G>A

Select item 14907542075.

rs1490754207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:29599896 (GRCh38)
17:27926914 (GRCh37)
Canonical SPDI:: NC_000017.11:29599895:A:C,NC_000017.11:29599895:A:T
Gene:: ANKRD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000269/1 (GnomAD)
T=0.008114/112 (TOMMO)
T=0.017808/52 (KOREAN)
HGVS:: NC_000017.11:g.29599896A>C, NC_000017.11:g.29599896A>T, NC_000017.10:g.27926914A>C, NC_000017.10:g.27926914A>T

Select item 14907069836.

rs1490706983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29599152 (GRCh38)
17:27926170 (GRCh37)
Canonical SPDI:: NC_000017.11:29599151:G:A
Gene:: ANKRD13B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29599152G>A, NC_000017.10:g.27926170G>A

Select item 14905706107.

rs1490570610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29613667 (GRCh38)
17:27940685 (GRCh37)
Canonical SPDI:: NC_000017.11:29613666:G:A
Gene:: ANKRD13B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29613667G>A, NC_000017.10:g.27940685G>A, NG_054920.1:g.14242C>T, XM_005257920.6:c.*85G>A, XM_005257920.5:c.*85G>A, XM_005257920.4:c.*85G>A, XM_005257920.3:c.*85G>A, XM_005257920.2:c.*85G>A, XM_005257920.1:c.*85G>A, NM_152345.5:c.*85G>A, NM_152345.4:c.*85G>A, XM_011524319.4:c.*85G>A, XM_011524319.3:c.*85G>A, XM_011524319.2:c.*85G>A, XM_011524319.1:c.*85G>A, XM_017024175.3:c.*85G>A, XM_017024175.2:c.*85G>A, XM_017024175.1:c.*85G>A, XM_017024176.3:c.*85G>A, XM_017024176.2:c.*85G>A, XM_017024176.1:c.*85G>A, XM_047435326.1:c.*649G>A, XM_047435325.1:c.*85G>A

Select item 14905675068.

rs1490567506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:29593277 (GRCh38)
17:27920295 (GRCh37)
Canonical SPDI:: NC_000017.11:29593276:G:C,NC_000017.11:29593276:G:T
Gene:: ANKRD13B (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.29593277G>C, NC_000017.11:g.29593277G>T, NC_000017.10:g.27920295G>C, NC_000017.10:g.27920295G>T, XM_005257920.6:c.82G>C, XM_005257920.6:c.82G>T, NM_152345.5:c.-345G>C, NM_152345.5:c.-345G>T, XM_011524321.3:c.82G>C, XM_011524321.3:c.82G>T, XM_011524320.3:c.82G>C, XM_011524320.3:c.82G>T, XM_047435326.1:c.82G>C, XM_047435326.1:c.82G>T, XM_047435327.1:c.82G>C, XM_047435327.1:c.82G>T, XM_047435329.1:c.82G>C, XM_047435329.1:c.82G>T, XP_005257977.2:p.Ala28Pro, XP_005257977.2:p.Ala28Ser, XP_011522623.2:p.Ala28Pro, XP_011522623.2:p.Ala28Ser, XP_011522622.2:p.Ala28Pro, XP_011522622.2:p.Ala28Ser, XP_047291282.1:p.Ala28Pro, XP_047291282.1:p.Ala28Ser, XP_047291283.1:p.Ala28Pro, XP_047291283.1:p.Ala28Ser, XP_047291285.1:p.Ala28Pro, XP_047291285.1:p.Ala28Ser

Select item 14905582479.

rs1490558247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:29599768 (GRCh38)
17:27926786 (GRCh37)
Canonical SPDI:: NC_000017.11:29599767:A:G,NC_000017.11:29599767:A:T
Gene:: ANKRD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.29599768A>G, NC_000017.11:g.29599768A>T, NC_000017.10:g.27926786A>G, NC_000017.10:g.27926786A>T

Select item 149049355710.

rs1490493557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29605971 (GRCh38)
17:27932989 (GRCh37)
Canonical SPDI:: NC_000017.11:29605970:G:C
Gene:: ANKRD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.29605971G>C, NC_000017.10:g.27932989G>C

Select item 149041505411.

rs1490415054 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:29609872 (GRCh38)
17:27936891 (GRCh37)
Canonical SPDI:: NC_000017.11:29609872::T
Gene:: ANKRD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000214/30 (GnomAD)
HGVS:: NC_000017.11:g.29609872_29609873insT, NC_000017.10:g.27936890_27936891insT

Select item 149035987412.

rs1490359874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29589337 (GRCh38)
17:27916355 (GRCh37)
Canonical SPDI:: NC_000017.11:29589336:G:A
Gene:: GIT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.29589337G>A, NC_000017.10:g.27916355G>A, NM_014030.4:c.42C>T, NM_014030.3:c.42C>T, XM_011524684.3:c.42C>T, XM_011524684.2:c.42C>T, XM_011524684.1:c.42C>T, XM_011524685.3:c.42C>T, XM_011524685.2:c.42C>T, XM_011524685.1:c.42C>T, NM_001085454.2:c.42C>T, NM_001085454.1:c.42C>T

Select item 149030629713.

rs1490306297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29592358 (GRCh38)
17:27919376 (GRCh37)
Canonical SPDI:: NC_000017.11:29592357:G:C
Gene:: ANKRD13B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.29592358G>C, NC_000017.10:g.27919376G>C

Select item 149025276514.

rs1490252765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:29610989 (GRCh38)
17:27938007 (GRCh37)
Canonical SPDI:: NC_000017.11:29610988:T:G
Gene:: ANKRD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29610989T>G, NC_000017.10:g.27938007T>G

Select item 149024976315.

rs1490249763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:29591338 (GRCh38)
17:27918356 (GRCh37)
Canonical SPDI:: NC_000017.11:29591337:G:T
Gene:: GIT1 (Varview), ANKRD13B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.29591338G>T, NC_000017.10:g.27918356G>T

Select item 149019642216.

rs1490196422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:29613804 (GRCh38)
17:27940822 (GRCh37)
Canonical SPDI:: NC_000017.11:29613803:C:A,NC_000017.11:29613803:C:T
Gene:: ANKRD13B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29613804C>A, NC_000017.11:g.29613804C>T, NC_000017.10:g.27940822C>A, NC_000017.10:g.27940822C>T, NG_054920.1:g.14105G>T, NG_054920.1:g.14105G>A, XM_005257920.6:c.*222C>A, XM_005257920.6:c.*222C>T, XM_005257920.5:c.*222C>A, XM_005257920.5:c.*222C>T, XM_005257920.4:c.*222C>A, XM_005257920.4:c.*222C>T, XM_005257920.3:c.*222C>A, XM_005257920.3:c.*222C>T, XM_005257920.2:c.*222C>A, XM_005257920.2:c.*222C>T, XM_005257920.1:c.*222C>A, XM_005257920.1:c.*222C>T, NM_152345.5:c.*222C>A, NM_152345.5:c.*222C>T, NM_152345.4:c.*222C>A, NM_152345.4:c.*222C>T, XM_011524319.4:c.*222C>A, XM_011524319.4:c.*222C>T, XM_011524319.3:c.*222C>A, XM_011524319.3:c.*222C>T, XM_011524319.2:c.*222C>A, XM_011524319.2:c.*222C>T, XM_011524319.1:c.*222C>A, XM_011524319.1:c.*222C>T, XM_017024175.3:c.*222C>A, XM_017024175.3:c.*222C>T, XM_017024175.2:c.*222C>A, XM_017024175.2:c.*222C>T, XM_017024175.1:c.*222C>A, XM_017024175.1:c.*222C>T, XM_017024176.3:c.*222C>A, XM_017024176.3:c.*222C>T, XM_017024176.2:c.*222C>A, XM_017024176.2:c.*222C>T, XM_017024176.1:c.*222C>A, XM_017024176.1:c.*222C>T, XM_047435326.1:c.*786C>A, XM_047435326.1:c.*786C>T, XM_047435325.1:c.*222C>A, XM_047435325.1:c.*222C>T

Select item 149005858317.

rs1490058583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29606301 (GRCh38)
17:27933319 (GRCh37)
Canonical SPDI:: NC_000017.11:29606300:G:A
Gene:: ANKRD13B (Varview)
Functional Consequence:: 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_000017.11:g.29606301G>A, NC_000017.10:g.27933319G>A

Select item 148999398518.

rs1489993985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:29596740 (GRCh38)
17:27923758 (GRCh37)
Canonical SPDI:: NC_000017.11:29596739:C:G,NC_000017.11:29596739:C:T
Gene:: ANKRD13B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29596740C>G, NC_000017.11:g.29596740C>T, NC_000017.10:g.27923758C>G, NC_000017.10:g.27923758C>T

Select item 148997073719.

rs1489970737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:29609469 (GRCh38)
17:27936487 (GRCh37)
Canonical SPDI:: NC_000017.11:29609468:A:T
Gene:: ANKRD13B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.29609469A>T, NC_000017.10:g.27936487A>T, XM_047435326.1:c.1296A>T

Select item 148989373020.

rs1489893730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29605976 (GRCh38)
17:27932994 (GRCh37)
Canonical SPDI:: NC_000017.11:29605975:G:C
Gene:: ANKRD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.29605976G>C, NC_000017.10:g.27932994G>C

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