SNP Links for Protein (Select 520975364) - SNP

Select item 14907876731.

rs1490787673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6588321 (GRCh38)
1:6648381 (GRCh37)
Canonical SPDI:: NC_000001.11:6588320:C:T
Gene:: ZBTB48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.6588321C>T, NC_000001.10:g.6648381C>T, NM_005341.4:c.1560C>T, NM_005341.3:c.1560C>T, NM_001278648.2:c.1560C>T, NM_001278648.1:c.1560C>T, NM_001278647.2:c.1560C>T, NM_001278647.1:c.1560C>T, XM_047418864.1:c.1560C>T, XM_047418868.1:c.633C>T, XM_047418867.1:c.633C>T, XM_047418869.1:c.633C>T, XM_047418870.1:c.633C>T, XM_047418865.1:c.1556C>T, XM_047418878.1:c.534C>T, XM_047418880.1:c.534C>T, XM_047418882.1:c.534C>T, XM_047418886.1:c.474C>T, XP_047274821.1:p.Pro519Leu

Select item 14899681782.

rs1489968178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6588820 (GRCh38)
1:6648880 (GRCh37)
Canonical SPDI:: NC_000001.11:6588819:G:A
Gene:: ZBTB48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.6588820G>A, NC_000001.10:g.6648880G>A, NM_005341.4:c.1746G>A, NM_005341.3:c.1746G>A, NM_001278648.2:c.1746G>A, NM_001278648.1:c.1746G>A, NM_001278647.2:c.1746G>A, NM_001278647.1:c.1746G>A, XM_047418864.1:c.1746G>A, XM_047418868.1:c.819G>A, XM_047418867.1:c.819G>A, XM_047418869.1:c.819G>A, XM_047418870.1:c.819G>A, XM_047418878.1:c.720G>A, XM_047418880.1:c.720G>A, XM_047418882.1:c.720G>A, XM_047418886.1:c.660G>A

Select item 14855321863.

rs1485532186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:6588187 (GRCh38)
1:6648247 (GRCh37)
Canonical SPDI:: NC_000001.11:6588186:C:G,NC_000001.11:6588186:C:T
Gene:: ZBTB48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.6588187C>G, NC_000001.11:g.6588187C>T, NC_000001.10:g.6648247C>G, NC_000001.10:g.6648247C>T, NM_005341.4:c.1507C>G, NM_005341.4:c.1507C>T, NM_005341.3:c.1507C>G, NM_005341.3:c.1507C>T, NM_001278648.2:c.1507C>G, NM_001278648.2:c.1507C>T, NM_001278648.1:c.1507C>G, NM_001278648.1:c.1507C>T, NM_001278647.2:c.1507C>G, NM_001278647.2:c.1507C>T, NM_001278647.1:c.1507C>G, NM_001278647.1:c.1507C>T, XM_047418864.1:c.1507C>G, XM_047418864.1:c.1507C>T, XM_047418868.1:c.580C>G, XM_047418868.1:c.580C>T, XM_047418867.1:c.580C>G, XM_047418867.1:c.580C>T, XM_047418869.1:c.580C>G, XM_047418869.1:c.580C>T, XM_047418870.1:c.580C>G, XM_047418870.1:c.580C>T, XM_047418865.1:c.1507C>G, XM_047418865.1:c.1507C>T, XM_047418878.1:c.481C>G, XM_047418878.1:c.481C>T, XM_047418880.1:c.481C>G, XM_047418880.1:c.481C>T, XM_047418882.1:c.481C>G, XM_047418882.1:c.481C>T, XM_047418886.1:c.421C>G, XM_047418886.1:c.421C>T, NP_005332.1:p.Arg503Gly, NP_005332.1:p.Arg503Ter, NP_001265577.1:p.Arg503Gly, NP_001265577.1:p.Arg503Ter, NP_001265576.1:p.Arg503Gly, NP_001265576.1:p.Arg503Ter, XP_047274820.1:p.Arg503Gly, XP_047274820.1:p.Arg503Ter, XP_047274824.1:p.Arg194Gly, XP_047274824.1:p.Arg194Ter, XP_047274823.1:p.Arg194Gly, XP_047274823.1:p.Arg194Ter, XP_047274825.1:p.Arg194Gly, XP_047274825.1:p.Arg194Ter, XP_047274826.1:p.Arg194Gly, XP_047274826.1:p.Arg194Ter, XP_047274821.1:p.Arg503Gly, XP_047274821.1:p.Arg503Ter, XP_047274834.1:p.Arg161Gly, XP_047274834.1:p.Arg161Ter, XP_047274836.1:p.Arg161Gly, XP_047274836.1:p.Arg161Ter, XP_047274838.1:p.Arg161Gly, XP_047274838.1:p.Arg161Ter, XP_047274842.1:p.Arg141Gly, XP_047274842.1:p.Arg141Ter

Select item 14854996004.

rs1485499600 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGATGGTG>- [Show Flanks]
Chromosome:: 1:6589009 (GRCh38)
1:6649069 (GRCh37)
Canonical SPDI:: NC_000001.11:6589007:GAAGATGGTG:G
Gene:: ZBTB48 (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6589009_6589017del, NC_000001.10:g.6649069_6649077del, NM_005341.4:c.1864_1872del, NM_005341.3:c.1864_1872del, NM_001278648.2:c.1864_1872del, NM_001278648.1:c.1864_1872del, NM_001278647.2:c.1864_1872del, NM_001278647.1:c.1864_1872del, XM_047418864.1:c.1864_1872del, XM_047418868.1:c.937_945del, XM_047418867.1:c.937_945del, XM_047418869.1:c.937_945del, XM_047418870.1:c.937_945del, XM_047418878.1:c.838_846del, XM_047418880.1:c.838_846del, XM_047418882.1:c.838_846del, XM_047418886.1:c.778_786del, NP_005332.1:p.Lys622_Val624del, NP_001265577.1:p.Lys622_Val624del, NP_001265576.1:p.Lys622_Val624del, XP_047274820.1:p.Lys622_Val624del, XP_047274824.1:p.Lys313_Val315del, XP_047274823.1:p.Lys313_Val315del, XP_047274825.1:p.Lys313_Val315del, XP_047274826.1:p.Lys313_Val315del, XP_047274834.1:p.Lys280_Val282del, XP_047274836.1:p.Lys280_Val282del, XP_047274838.1:p.Lys280_Val282del, XP_047274842.1:p.Lys260_Val262del

Select item 14848555545.

rs1484855554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6580964 (GRCh38)
1:6641024 (GRCh37)
Canonical SPDI:: NC_000001.11:6580963:T:C
Gene:: ZBTB48 (Varview), LOC107984912 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.6580964T>C, NC_000001.10:g.6641024T>C, NM_005341.4:c.355T>C, NM_005341.3:c.355T>C, XM_017001111.3:c.355T>C, XM_017001111.2:c.355T>C, XM_017001111.1:c.355T>C, NM_001278648.2:c.355T>C, NM_001278648.1:c.355T>C, NM_001278647.2:c.355T>C, NM_001278647.1:c.355T>C, XM_047418864.1:c.355T>C, XM_047418868.1:c.-331T>C, XM_047418867.1:c.-331T>C, XM_047418869.1:c.-331T>C, XM_047418870.1:c.-331T>C, XM_047418865.1:c.355T>C, XM_047418875.1:c.355T>C, NP_005332.1:p.Ser119Pro, XP_016856600.1:p.Ser119Pro, NP_001265577.1:p.Ser119Pro, NP_001265576.1:p.Ser119Pro, XP_047274820.1:p.Ser119Pro, XP_047274821.1:p.Ser119Pro, XP_047274831.1:p.Ser119Pro

Select item 14811141336.

rs1481114133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6588097 (GRCh38)
1:6648157 (GRCh37)
Canonical SPDI:: NC_000001.11:6588096:G:A
Gene:: ZBTB48 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6588097G>A, NC_000001.10:g.6648157G>A, NM_005341.4:c.1417G>A, NM_005341.3:c.1417G>A, NM_001278648.2:c.1417G>A, NM_001278648.1:c.1417G>A, NM_001278647.2:c.1417G>A, NM_001278647.1:c.1417G>A, XM_047418864.1:c.1417G>A, XM_047418868.1:c.490G>A, XM_047418867.1:c.490G>A, XM_047418869.1:c.490G>A, XM_047418870.1:c.490G>A, XM_047418865.1:c.1417G>A, XM_047418878.1:c.391G>A, XM_047418880.1:c.391G>A, XM_047418882.1:c.391G>A, XM_047418886.1:c.331G>A, NP_005332.1:p.Ala473Thr, NP_001265577.1:p.Ala473Thr, NP_001265576.1:p.Ala473Thr, XP_047274820.1:p.Ala473Thr, XP_047274824.1:p.Ala164Thr, XP_047274823.1:p.Ala164Thr, XP_047274825.1:p.Ala164Thr, XP_047274826.1:p.Ala164Thr, XP_047274821.1:p.Ala473Thr, XP_047274834.1:p.Ala131Thr, XP_047274836.1:p.Ala131Thr, XP_047274838.1:p.Ala131Thr, XP_047274842.1:p.Ala111Thr

Select item 14798982287.

rs1479898228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6581195 (GRCh38)
1:6641255 (GRCh37)
Canonical SPDI:: NC_000001.11:6581194:G:A
Gene:: ZBTB48 (Varview), LOC107984912 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.6581195G>A, NC_000001.10:g.6641255G>A, NM_005341.4:c.586G>A, NM_005341.3:c.586G>A, XM_017001111.3:c.586G>A, XM_017001111.2:c.586G>A, XM_017001111.1:c.586G>A, NM_001278648.2:c.586G>A, NM_001278648.1:c.586G>A, NM_001278647.2:c.586G>A, NM_001278647.1:c.586G>A, XM_047418864.1:c.586G>A, XM_047418868.1:c.-100G>A, XM_047418867.1:c.-100G>A, XM_047418869.1:c.-100G>A, XM_047418870.1:c.-100G>A, XM_047418865.1:c.586G>A, XM_047418875.1:c.586G>A, NP_005332.1:p.Ala196Thr, XP_016856600.1:p.Ala196Thr, NP_001265577.1:p.Ala196Thr, NP_001265576.1:p.Ala196Thr, XP_047274820.1:p.Ala196Thr, XP_047274821.1:p.Ala196Thr, XP_047274831.1:p.Ala196Thr

Select item 14796074948.

rs1479607494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6588757 (GRCh38)
1:6648817 (GRCh37)
Canonical SPDI:: NC_000001.11:6588756:C:T
Gene:: ZBTB48 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6588757C>T, NC_000001.10:g.6648817C>T, NM_005341.4:c.1683C>T, NM_005341.3:c.1683C>T, NM_001278648.2:c.1683C>T, NM_001278648.1:c.1683C>T, NM_001278647.2:c.1683C>T, NM_001278647.1:c.1683C>T, XM_047418864.1:c.1683C>T, XM_047418868.1:c.756C>T, XM_047418867.1:c.756C>T, XM_047418869.1:c.756C>T, XM_047418870.1:c.756C>T, XM_047418878.1:c.657C>T, XM_047418880.1:c.657C>T, XM_047418882.1:c.657C>T, XM_047418886.1:c.597C>T

Select item 14793853689.

rs1479385368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6589126 (GRCh38)
1:6649186 (GRCh37)
Canonical SPDI:: NC_000001.11:6589125:T:C
Gene:: ZBTB48 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.6589126T>C, NC_000001.10:g.6649186T>C, NM_005341.4:c.1981T>C, NM_005341.3:c.1981T>C, NM_001278648.2:c.1981T>C, NM_001278648.1:c.1981T>C, NM_001278647.2:c.1981T>C, NM_001278647.1:c.1981T>C, XM_047418864.1:c.1981T>C, XM_047418868.1:c.1054T>C, XM_047418867.1:c.1054T>C, XM_047418869.1:c.1054T>C, XM_047418870.1:c.1054T>C, XM_047418878.1:c.955T>C, XM_047418880.1:c.955T>C, XM_047418882.1:c.955T>C, XM_047418886.1:c.895T>C, NP_005332.1:p.Cys661Arg, NP_001265577.1:p.Cys661Arg, NP_001265576.1:p.Cys661Arg, XP_047274820.1:p.Cys661Arg, XP_047274824.1:p.Cys352Arg, XP_047274823.1:p.Cys352Arg, XP_047274825.1:p.Cys352Arg, XP_047274826.1:p.Cys352Arg, XP_047274834.1:p.Cys319Arg, XP_047274836.1:p.Cys319Arg, XP_047274838.1:p.Cys319Arg, XP_047274842.1:p.Cys299Arg

Select item 147773402010.

rs1477734020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6588154 (GRCh38)
1:6648214 (GRCh37)
Canonical SPDI:: NC_000001.11:6588153:C:T
Gene:: ZBTB48 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6588154C>T, NC_000001.10:g.6648214C>T, NM_005341.4:c.1474C>T, NM_005341.3:c.1474C>T, NM_001278648.2:c.1474C>T, NM_001278648.1:c.1474C>T, NM_001278647.2:c.1474C>T, NM_001278647.1:c.1474C>T, XM_047418864.1:c.1474C>T, XM_047418868.1:c.547C>T, XM_047418867.1:c.547C>T, XM_047418869.1:c.547C>T, XM_047418870.1:c.547C>T, XM_047418865.1:c.1474C>T, XM_047418878.1:c.448C>T, XM_047418880.1:c.448C>T, XM_047418882.1:c.448C>T, XM_047418886.1:c.388C>T, NP_005332.1:p.Pro492Ser, NP_001265577.1:p.Pro492Ser, NP_001265576.1:p.Pro492Ser, XP_047274820.1:p.Pro492Ser, XP_047274824.1:p.Pro183Ser, XP_047274823.1:p.Pro183Ser, XP_047274825.1:p.Pro183Ser, XP_047274826.1:p.Pro183Ser, XP_047274821.1:p.Pro492Ser, XP_047274834.1:p.Pro150Ser, XP_047274836.1:p.Pro150Ser, XP_047274838.1:p.Pro150Ser, XP_047274842.1:p.Pro130Ser

Select item 147619075111.

rs1476190751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6580695 (GRCh38)
1:6640755 (GRCh37)
Canonical SPDI:: NC_000001.11:6580694:C:T
Gene:: ZBTB48 (Varview), LOC107984912 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6580695C>T, NC_000001.10:g.6640755C>T, NM_005341.4:c.86C>T, NM_005341.3:c.86C>T, XM_017001111.3:c.86C>T, XM_017001111.2:c.86C>T, XM_017001111.1:c.86C>T, NM_001278648.2:c.86C>T, NM_001278648.1:c.86C>T, NM_001278647.2:c.86C>T, NM_001278647.1:c.86C>T, XM_047418864.1:c.86C>T, XM_047418868.1:c.-600C>T, XM_047418867.1:c.-600C>T, XM_047418869.1:c.-600C>T, XM_047418870.1:c.-600C>T, XM_047418865.1:c.86C>T, XM_047418875.1:c.86C>T, NP_005332.1:p.Thr29Ile, XP_016856600.1:p.Thr29Ile, NP_001265577.1:p.Thr29Ile, NP_001265576.1:p.Thr29Ile, XP_047274820.1:p.Thr29Ile, XP_047274821.1:p.Thr29Ile, XP_047274831.1:p.Thr29Ile

Select item 147567923612.

rs1475679236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6587555 (GRCh38)
1:6647615 (GRCh37)
Canonical SPDI:: NC_000001.11:6587554:G:A
Gene:: ZBTB48 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_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_000001.11:g.6587555G>A, NC_000001.10:g.6647615G>A, NM_005341.4:c.1302G>A, NM_005341.3:c.1302G>A, NM_001278648.2:c.1302G>A, NM_001278648.1:c.1302G>A, NM_001278647.2:c.1302G>A, NM_001278647.1:c.1302G>A, XM_047418864.1:c.1302G>A, XM_047418868.1:c.375G>A, XM_047418867.1:c.375G>A, XM_047418869.1:c.375G>A, XM_047418870.1:c.375G>A, XM_047418865.1:c.1302G>A, XM_047418878.1:c.276G>A, XM_047418880.1:c.276G>A, XM_047418882.1:c.276G>A, XM_047418886.1:c.216G>A

Select item 147547748813.

rs1475477488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6580663 (GRCh38)
1:6640723 (GRCh37)
Canonical SPDI:: NC_000001.11:6580662:G:A
Gene:: ZBTB48 (Varview), LOC107984912 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.6580663G>A, NC_000001.10:g.6640723G>A, NM_005341.4:c.54G>A, NM_005341.3:c.54G>A, XM_017001111.3:c.54G>A, XM_017001111.2:c.54G>A, XM_017001111.1:c.54G>A, NM_001278648.2:c.54G>A, NM_001278648.1:c.54G>A, NM_001278647.2:c.54G>A, NM_001278647.1:c.54G>A, XM_047418864.1:c.54G>A, XM_047418868.1:c.-632G>A, XM_047418867.1:c.-632G>A, XM_047418869.1:c.-632G>A, XM_047418870.1:c.-632G>A, XM_047418865.1:c.54G>A, XM_047418875.1:c.54G>A

Select item 147320621614.

rs1473206216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:6580936 (GRCh38)
1:6640996 (GRCh37)
Canonical SPDI:: NC_000001.11:6580935:G:C
Gene:: ZBTB48 (Varview), LOC107984912 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6580936G>C, NC_000001.10:g.6640996G>C, NM_005341.4:c.327G>C, NM_005341.3:c.327G>C, XM_017001111.3:c.327G>C, XM_017001111.2:c.327G>C, XM_017001111.1:c.327G>C, NM_001278648.2:c.327G>C, NM_001278648.1:c.327G>C, NM_001278647.2:c.327G>C, NM_001278647.1:c.327G>C, XM_047418864.1:c.327G>C, XM_047418868.1:c.-359G>C, XM_047418867.1:c.-359G>C, XM_047418869.1:c.-359G>C, XM_047418870.1:c.-359G>C, XM_047418865.1:c.327G>C, XM_047418875.1:c.327G>C, NP_005332.1:p.Glu109Asp, XP_016856600.1:p.Glu109Asp, NP_001265577.1:p.Glu109Asp, NP_001265576.1:p.Glu109Asp, XP_047274820.1:p.Glu109Asp, XP_047274821.1:p.Glu109Asp, XP_047274831.1:p.Glu109Asp

Select item 147173886315.

rs1471738863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6588407 (GRCh38)
1:6648467 (GRCh37)
Canonical SPDI:: NC_000001.11:6588406:C:G
Gene:: ZBTB48 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6588407C>G, NC_000001.10:g.6648467C>G, NM_005341.4:c.1646C>G, NM_005341.3:c.1646C>G, NM_001278648.2:c.1646C>G, NM_001278648.1:c.1646C>G, NM_001278647.2:c.1646C>G, NM_001278647.1:c.1646C>G, XM_047418864.1:c.1646C>G, XM_047418868.1:c.719C>G, XM_047418867.1:c.719C>G, XM_047418869.1:c.719C>G, XM_047418870.1:c.719C>G, XM_047418865.1:c.*34C>G, XM_047418878.1:c.620C>G, XM_047418880.1:c.620C>G, XM_047418882.1:c.620C>G, XM_047418886.1:c.560C>G, NP_005332.1:p.Pro549Arg, NP_001265577.1:p.Pro549Arg, NP_001265576.1:p.Pro549Arg, XP_047274820.1:p.Pro549Arg, XP_047274824.1:p.Pro240Arg, XP_047274823.1:p.Pro240Arg, XP_047274825.1:p.Pro240Arg, XP_047274826.1:p.Pro240Arg, XP_047274834.1:p.Pro207Arg, XP_047274836.1:p.Pro207Arg, XP_047274838.1:p.Pro207Arg, XP_047274842.1:p.Pro187Arg

Select item 147158708716.

rs1471587087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6586021 (GRCh38)
1:6646081 (GRCh37)
Canonical SPDI:: NC_000001.11:6586020:C:T
Gene:: ZBTB48 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.6586021C>T, NC_000001.10:g.6646081C>T, NM_005341.4:c.1035C>T, NM_005341.3:c.1035C>T, XM_017001111.3:c.1035C>T, XM_017001111.2:c.1035C>T, XM_017001111.1:c.1035C>T, NM_001278648.2:c.1035C>T, NM_001278648.1:c.1035C>T, NM_001278647.2:c.1035C>T, NM_001278647.1:c.1035C>T, XM_047418864.1:c.1035C>T, XM_047418868.1:c.108C>T, XM_047418867.1:c.108C>T, XM_047418869.1:c.108C>T, XM_047418870.1:c.108C>T, XM_047418865.1:c.1035C>T, XM_047418875.1:c.1035C>T, XM_047418878.1:c.9C>T, XM_047418880.1:c.9C>T, XM_047418882.1:c.9C>T

Select item 146860223117.

rs1468602231 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:6581259 (GRCh38)
1:6641320 (GRCh37)
Canonical SPDI:: NC_000001.11:6581259:A:AA
Gene:: ZBTB48 (Varview), LOC107984912 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6581260dup, NC_000001.10:g.6641320dup, NM_005341.4:c.651dup, NM_005341.3:c.651dup, XM_017001111.3:c.651dup, XM_017001111.2:c.651dup, XM_017001111.1:c.651dup, NM_001278648.2:c.651dup, NM_001278648.1:c.651dup, NM_001278647.2:c.651dup, NM_001278647.1:c.651dup, XM_047418864.1:c.651dup, XM_047418868.1:c.-35dup, XM_047418867.1:c.-35dup, XM_047418869.1:c.-35dup, XM_047418870.1:c.-35dup, XM_047418865.1:c.651dup, XM_047418875.1:c.651dup, NP_005332.1:p.Glu218fs, XP_016856600.1:p.Glu218fs, NP_001265577.1:p.Glu218fs, NP_001265576.1:p.Glu218fs, XP_047274820.1:p.Glu218fs, XP_047274821.1:p.Glu218fs, XP_047274831.1:p.Glu218fs

Select item 146686394018.

rs1466863940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:6580831 (GRCh38)
1:6640891 (GRCh37)
Canonical SPDI:: NC_000001.11:6580830:C:A,NC_000001.11:6580830:C:T
Gene:: ZBTB48 (Varview), LOC107984912 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6580831C>A, NC_000001.11:g.6580831C>T, NC_000001.10:g.6640891C>A, NC_000001.10:g.6640891C>T, NM_005341.4:c.222C>A, NM_005341.4:c.222C>T, NM_005341.3:c.222C>A, NM_005341.3:c.222C>T, XM_017001111.3:c.222C>A, XM_017001111.3:c.222C>T, XM_017001111.2:c.222C>A, XM_017001111.2:c.222C>T, XM_017001111.1:c.222C>A, XM_017001111.1:c.222C>T, NM_001278648.2:c.222C>A, NM_001278648.2:c.222C>T, NM_001278648.1:c.222C>A, NM_001278648.1:c.222C>T, NM_001278647.2:c.222C>A, NM_001278647.2:c.222C>T, NM_001278647.1:c.222C>A, NM_001278647.1:c.222C>T, XM_047418864.1:c.222C>A, XM_047418864.1:c.222C>T, XM_047418868.1:c.-464C>A, XM_047418868.1:c.-464C>T, XM_047418867.1:c.-464C>A, XM_047418867.1:c.-464C>T, XM_047418869.1:c.-464C>A, XM_047418869.1:c.-464C>T, XM_047418870.1:c.-464C>A, XM_047418870.1:c.-464C>T, XM_047418865.1:c.222C>A, XM_047418865.1:c.222C>T, XM_047418875.1:c.222C>A, XM_047418875.1:c.222C>T

Select item 146580495319.

rs1465804953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:6588967 (GRCh38)
1:6649027 (GRCh37)
Canonical SPDI:: NC_000001.11:6588966:C:G,NC_000001.11:6588966:C:T
Gene:: ZBTB48 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6588967C>G, NC_000001.11:g.6588967C>T, NC_000001.10:g.6649027C>G, NC_000001.10:g.6649027C>T, NM_005341.4:c.1822C>G, NM_005341.4:c.1822C>T, NM_005341.3:c.1822C>G, NM_005341.3:c.1822C>T, NM_001278648.2:c.1822C>G, NM_001278648.2:c.1822C>T, NM_001278648.1:c.1822C>G, NM_001278648.1:c.1822C>T, NM_001278647.2:c.1822C>G, NM_001278647.2:c.1822C>T, NM_001278647.1:c.1822C>G, NM_001278647.1:c.1822C>T, XM_047418864.1:c.1822C>G, XM_047418864.1:c.1822C>T, XM_047418868.1:c.895C>G, XM_047418868.1:c.895C>T, XM_047418867.1:c.895C>G, XM_047418867.1:c.895C>T, XM_047418869.1:c.895C>G, XM_047418869.1:c.895C>T, XM_047418870.1:c.895C>G, XM_047418870.1:c.895C>T, XM_047418878.1:c.796C>G, XM_047418878.1:c.796C>T, XM_047418880.1:c.796C>G, XM_047418880.1:c.796C>T, XM_047418882.1:c.796C>G, XM_047418882.1:c.796C>T, XM_047418886.1:c.736C>G, XM_047418886.1:c.736C>T, NP_005332.1:p.Pro608Ala, NP_005332.1:p.Pro608Ser, NP_001265577.1:p.Pro608Ala, NP_001265577.1:p.Pro608Ser, NP_001265576.1:p.Pro608Ala, NP_001265576.1:p.Pro608Ser, XP_047274820.1:p.Pro608Ala, XP_047274820.1:p.Pro608Ser, XP_047274824.1:p.Pro299Ala, XP_047274824.1:p.Pro299Ser, XP_047274823.1:p.Pro299Ala, XP_047274823.1:p.Pro299Ser, XP_047274825.1:p.Pro299Ala, XP_047274825.1:p.Pro299Ser, XP_047274826.1:p.Pro299Ala, XP_047274826.1:p.Pro299Ser, XP_047274834.1:p.Pro266Ala, XP_047274834.1:p.Pro266Ser, XP_047274836.1:p.Pro266Ala, XP_047274836.1:p.Pro266Ser, XP_047274838.1:p.Pro266Ala, XP_047274838.1:p.Pro266Ser, XP_047274842.1:p.Pro246Ala, XP_047274842.1:p.Pro246Ser

Select item 146472407620.

rs1464724076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:6582217 (GRCh38)
1:6642277 (GRCh37)
Canonical SPDI:: NC_000001.11:6582216:A:G
Gene:: ZBTB48 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6582217A>G, NC_000001.10:g.6642277A>G, NM_005341.4:c.850A>G, NM_005341.3:c.850A>G, XM_017001111.3:c.850A>G, XM_017001111.2:c.850A>G, XM_017001111.1:c.850A>G, NM_001278648.2:c.850A>G, NM_001278648.1:c.850A>G, NM_001278647.2:c.850A>G, NM_001278647.1:c.850A>G, XM_047418864.1:c.850A>G, XM_047418865.1:c.850A>G, XM_047418875.1:c.850A>G, NP_005332.1:p.Arg284Gly, XP_016856600.1:p.Arg284Gly, NP_001265577.1:p.Arg284Gly, NP_001265576.1:p.Arg284Gly, XP_047274820.1:p.Arg284Gly, XP_047274821.1:p.Arg284Gly, XP_047274831.1:p.Arg284Gly

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Result Filters

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Items: 1 to 20 of 736

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