SNP Links for Protein (Select 209413766) - SNP

Select item 14895927121.

rs1489592712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:126832929 (GRCh38)
9:129595208 (GRCh37)
Canonical SPDI:: NC_000009.12:126832928:C:T
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.126832929C>T, NC_000009.11:g.129595208C>T, XM_005251835.4:c.420C>T, XM_005251835.3:c.420C>T, XM_005251835.2:c.420C>T, XM_005251835.1:c.420C>T, NM_014007.4:c.420C>T, NM_014007.3:c.420C>T, XM_011518411.3:c.420C>T, XM_011518411.2:c.420C>T, XM_011518411.1:c.420C>T, NM_001135776.2:c.420C>T, NM_001135776.1:c.420C>T, XM_047423032.1:c.420C>T, XM_047423031.1:c.420C>T, XM_011518409.1:c.420C>T

Select item 14888306262.

rs1488830626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:126833310 (GRCh38)
9:129595589 (GRCh37)
Canonical SPDI:: NC_000009.12:126833309:C:T
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.126833310C>T, NC_000009.11:g.129595589C>T, XM_005251835.4:c.801C>T, XM_005251835.3:c.801C>T, XM_005251835.2:c.801C>T, XM_005251835.1:c.801C>T, NM_014007.4:c.801C>T, NM_014007.3:c.801C>T, XM_011518411.3:c.801C>T, XM_011518411.2:c.801C>T, XM_011518411.1:c.801C>T, NM_001135776.2:c.801C>T, NM_001135776.1:c.801C>T, XM_047423032.1:c.801C>T, XM_047423031.1:c.801C>T, XM_011518409.1:c.801C>T

Select item 14880692173.

rs1488069217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:126833875 (GRCh38)
9:129596154 (GRCh37)
Canonical SPDI:: NC_000009.12:126833874:G:A
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.126833875G>A, NC_000009.11:g.129596154G>A, XM_005251835.4:c.1366G>A, XM_005251835.3:c.1366G>A, XM_005251835.2:c.1366G>A, XM_005251835.1:c.1366G>A, NM_014007.4:c.1366G>A, NM_014007.3:c.1366G>A, XM_011518411.3:c.1366G>A, XM_011518411.2:c.1366G>A, XM_011518411.1:c.1366G>A, NM_001135776.2:c.1366G>A, NM_001135776.1:c.1366G>A, XM_047423032.1:c.1366G>A, XM_047423031.1:c.1366G>A, XM_011518409.1:c.1366G>A, XP_005251892.1:p.Ala456Thr, NP_054726.1:p.Ala456Thr, XP_011516713.1:p.Ala456Thr, NP_001129248.1:p.Ala456Thr, XP_047278988.1:p.Ala456Thr, XP_047278987.1:p.Ala456Thr, XP_011516711.1:p.Ala456Thr

Select item 14849521804.

rs1484952180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:126832531 (GRCh38)
9:129594810 (GRCh37)
Canonical SPDI:: NC_000009.12:126832530:T:C
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.126832531T>C, NC_000009.11:g.129594810T>C, XM_005251835.4:c.22T>C, XM_005251835.3:c.22T>C, XM_005251835.2:c.22T>C, XM_005251835.1:c.22T>C, NM_014007.4:c.22T>C, NM_014007.3:c.22T>C, XM_011518411.3:c.22T>C, XM_011518411.2:c.22T>C, XM_011518411.1:c.22T>C, NM_001135776.2:c.22T>C, NM_001135776.1:c.22T>C, XM_047423032.1:c.22T>C, XM_047423031.1:c.22T>C, XM_011518409.1:c.22T>C, XP_005251892.1:p.Phe8Leu, NP_054726.1:p.Phe8Leu, XP_011516713.1:p.Phe8Leu, NP_001129248.1:p.Phe8Leu, XP_047278988.1:p.Phe8Leu, XP_047278987.1:p.Phe8Leu, XP_011516711.1:p.Phe8Leu

Select item 14817758735.

rs1481775873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:126833841 (GRCh38)
9:129596120 (GRCh37)
Canonical SPDI:: NC_000009.12:126833840:C:A
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000009.12:g.126833841C>A, NC_000009.11:g.129596120C>A, XM_005251835.4:c.1332C>A, XM_005251835.3:c.1332C>A, XM_005251835.2:c.1332C>A, XM_005251835.1:c.1332C>A, NM_014007.4:c.1332C>A, NM_014007.3:c.1332C>A, XM_011518411.3:c.1332C>A, XM_011518411.2:c.1332C>A, XM_011518411.1:c.1332C>A, NM_001135776.2:c.1332C>A, NM_001135776.1:c.1332C>A, XM_047423032.1:c.1332C>A, XM_047423031.1:c.1332C>A, XM_011518409.1:c.1332C>A, XP_005251892.1:p.His444Gln, NP_054726.1:p.His444Gln, XP_011516713.1:p.His444Gln, NP_001129248.1:p.His444Gln, XP_047278988.1:p.His444Gln, XP_047278987.1:p.His444Gln, XP_011516711.1:p.His444Gln

Select item 14800811706.

rs1480081170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:126833480 (GRCh38)
9:129595759 (GRCh37)
Canonical SPDI:: NC_000009.12:126833479:A:G
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.126833480A>G, NC_000009.11:g.129595759A>G, XM_005251835.4:c.971A>G, XM_005251835.3:c.971A>G, XM_005251835.2:c.971A>G, XM_005251835.1:c.971A>G, NM_014007.4:c.971A>G, NM_014007.3:c.971A>G, XM_011518411.3:c.971A>G, XM_011518411.2:c.971A>G, XM_011518411.1:c.971A>G, NM_001135776.2:c.971A>G, NM_001135776.1:c.971A>G, XM_047423032.1:c.971A>G, XM_047423031.1:c.971A>G, XM_011518409.1:c.971A>G, XP_005251892.1:p.Glu324Gly, NP_054726.1:p.Glu324Gly, XP_011516713.1:p.Glu324Gly, NP_001129248.1:p.Glu324Gly, XP_047278988.1:p.Glu324Gly, XP_047278987.1:p.Glu324Gly, XP_011516711.1:p.Glu324Gly

Select item 14789951707.

rs1478995170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:126833566 (GRCh38)
9:129595845 (GRCh37)
Canonical SPDI:: NC_000009.12:126833565:A:G
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.126833566A>G, NC_000009.11:g.129595845A>G, XM_005251835.4:c.1057A>G, XM_005251835.3:c.1057A>G, XM_005251835.2:c.1057A>G, XM_005251835.1:c.1057A>G, NM_014007.4:c.1057A>G, NM_014007.3:c.1057A>G, XM_011518411.3:c.1057A>G, XM_011518411.2:c.1057A>G, XM_011518411.1:c.1057A>G, NM_001135776.2:c.1057A>G, NM_001135776.1:c.1057A>G, XM_047423032.1:c.1057A>G, XM_047423031.1:c.1057A>G, XM_011518409.1:c.1057A>G, XP_005251892.1:p.Met353Val, NP_054726.1:p.Met353Val, XP_011516713.1:p.Met353Val, NP_001129248.1:p.Met353Val, XP_047278988.1:p.Met353Val, XP_047278987.1:p.Met353Val, XP_011516711.1:p.Met353Val

Select item 14758566908.

rs1475856690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:126833313 (GRCh38)
9:129595592 (GRCh37)
Canonical SPDI:: NC_000009.12:126833312:G:C
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.126833313G>C, NC_000009.11:g.129595592G>C, XM_005251835.4:c.804G>C, XM_005251835.3:c.804G>C, XM_005251835.2:c.804G>C, XM_005251835.1:c.804G>C, NM_014007.4:c.804G>C, NM_014007.3:c.804G>C, XM_011518411.3:c.804G>C, XM_011518411.2:c.804G>C, XM_011518411.1:c.804G>C, NM_001135776.2:c.804G>C, NM_001135776.1:c.804G>C, XM_047423032.1:c.804G>C, XM_047423031.1:c.804G>C, XM_011518409.1:c.804G>C, XP_005251892.1:p.Gln268His, NP_054726.1:p.Gln268His, XP_011516713.1:p.Gln268His, NP_001129248.1:p.Gln268His, XP_047278988.1:p.Gln268His, XP_047278987.1:p.Gln268His, XP_011516711.1:p.Gln268His

Select item 14747674759.

rs1474767475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:126833043 (GRCh38)
9:129595322 (GRCh37)
Canonical SPDI:: NC_000009.12:126833042:G:A
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.126833043G>A, NC_000009.11:g.129595322G>A, XM_005251835.4:c.534G>A, XM_005251835.3:c.534G>A, XM_005251835.2:c.534G>A, XM_005251835.1:c.534G>A, NM_014007.4:c.534G>A, NM_014007.3:c.534G>A, XM_011518411.3:c.534G>A, XM_011518411.2:c.534G>A, XM_011518411.1:c.534G>A, NM_001135776.2:c.534G>A, NM_001135776.1:c.534G>A, XM_047423032.1:c.534G>A, XM_047423031.1:c.534G>A, XM_011518409.1:c.534G>A

Select item 147430483910.

rs1474304839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:126833683 (GRCh38)
9:129595962 (GRCh37)
Canonical SPDI:: NC_000009.12:126833682:A:G
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.126833683A>G, NC_000009.11:g.129595962A>G, XM_005251835.4:c.1174A>G, XM_005251835.3:c.1174A>G, XM_005251835.2:c.1174A>G, XM_005251835.1:c.1174A>G, NM_014007.4:c.1174A>G, NM_014007.3:c.1174A>G, XM_011518411.3:c.1174A>G, XM_011518411.2:c.1174A>G, XM_011518411.1:c.1174A>G, NM_001135776.2:c.1174A>G, NM_001135776.1:c.1174A>G, XM_047423032.1:c.1174A>G, XM_047423031.1:c.1174A>G, XM_011518409.1:c.1174A>G, XP_005251892.1:p.Ser392Gly, NP_054726.1:p.Ser392Gly, XP_011516713.1:p.Ser392Gly, NP_001129248.1:p.Ser392Gly, XP_047278988.1:p.Ser392Gly, XP_047278987.1:p.Ser392Gly, XP_011516711.1:p.Ser392Gly

Select item 146942887011.

rs1469428870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:126832894 (GRCh38)
9:129595173 (GRCh37)
Canonical SPDI:: NC_000009.12:126832893:G:T
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.126832894G>T, NC_000009.11:g.129595173G>T, XM_005251835.4:c.385G>T, XM_005251835.3:c.385G>T, XM_005251835.2:c.385G>T, XM_005251835.1:c.385G>T, NM_014007.4:c.385G>T, NM_014007.3:c.385G>T, XM_011518411.3:c.385G>T, XM_011518411.2:c.385G>T, XM_011518411.1:c.385G>T, NM_001135776.2:c.385G>T, NM_001135776.1:c.385G>T, XM_047423032.1:c.385G>T, XM_047423031.1:c.385G>T, XM_011518409.1:c.385G>T, XP_005251892.1:p.Val129Phe, NP_054726.1:p.Val129Phe, XP_011516713.1:p.Val129Phe, NP_001129248.1:p.Val129Phe, XP_047278988.1:p.Val129Phe, XP_047278987.1:p.Val129Phe, XP_011516711.1:p.Val129Phe

Select item 146895280312.

rs1468952803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:126832569 (GRCh38)
9:129594848 (GRCh37)
Canonical SPDI:: NC_000009.12:126832568:A:G
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.126832569A>G, NC_000009.11:g.129594848A>G, XM_005251835.4:c.60A>G, XM_005251835.3:c.60A>G, XM_005251835.2:c.60A>G, XM_005251835.1:c.60A>G, NM_014007.4:c.60A>G, NM_014007.3:c.60A>G, XM_011518411.3:c.60A>G, XM_011518411.2:c.60A>G, XM_011518411.1:c.60A>G, NM_001135776.2:c.60A>G, NM_001135776.1:c.60A>G, XM_047423032.1:c.60A>G, XM_047423031.1:c.60A>G, XM_011518409.1:c.60A>G

Select item 146810436613.

rs1468104366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:126833266 (GRCh38)
9:129595545 (GRCh37)
Canonical SPDI:: NC_000009.12:126833265:C:A
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000055/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.126833266C>A, NC_000009.11:g.129595545C>A, XM_005251835.4:c.757C>A, XM_005251835.3:c.757C>A, XM_005251835.2:c.757C>A, XM_005251835.1:c.757C>A, NM_014007.4:c.757C>A, NM_014007.3:c.757C>A, XM_011518411.3:c.757C>A, XM_011518411.2:c.757C>A, XM_011518411.1:c.757C>A, NM_001135776.2:c.757C>A, NM_001135776.1:c.757C>A, XM_047423032.1:c.757C>A, XM_047423031.1:c.757C>A, XM_011518409.1:c.757C>A, XP_005251892.1:p.Gln253Lys, NP_054726.1:p.Gln253Lys, XP_011516713.1:p.Gln253Lys, NP_001129248.1:p.Gln253Lys, XP_047278988.1:p.Gln253Lys, XP_047278987.1:p.Gln253Lys, XP_011516711.1:p.Gln253Lys

Select item 146750742514.

rs1467507425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:126833279 (GRCh38)
9:129595558 (GRCh37)
Canonical SPDI:: NC_000009.12:126833278:G:A
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.126833279G>A, NC_000009.11:g.129595558G>A, XM_005251835.4:c.770G>A, XM_005251835.3:c.770G>A, XM_005251835.2:c.770G>A, XM_005251835.1:c.770G>A, NM_014007.4:c.770G>A, NM_014007.3:c.770G>A, XM_011518411.3:c.770G>A, XM_011518411.2:c.770G>A, XM_011518411.1:c.770G>A, NM_001135776.2:c.770G>A, NM_001135776.1:c.770G>A, XM_047423032.1:c.770G>A, XM_047423031.1:c.770G>A, XM_011518409.1:c.770G>A, XP_005251892.1:p.Gly257Asp, NP_054726.1:p.Gly257Asp, XP_011516713.1:p.Gly257Asp, NP_001129248.1:p.Gly257Asp, XP_047278988.1:p.Gly257Asp, XP_047278987.1:p.Gly257Asp, XP_011516711.1:p.Gly257Asp

Select item 146338783415.

rs1463387834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:126832539 (GRCh38)
9:129594818 (GRCh37)
Canonical SPDI:: NC_000009.12:126832538:A:G
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.126832539A>G, NC_000009.11:g.129594818A>G, XM_005251835.4:c.30A>G, XM_005251835.3:c.30A>G, XM_005251835.2:c.30A>G, XM_005251835.1:c.30A>G, NM_014007.4:c.30A>G, NM_014007.3:c.30A>G, XM_011518411.3:c.30A>G, XM_011518411.2:c.30A>G, XM_011518411.1:c.30A>G, NM_001135776.2:c.30A>G, NM_001135776.1:c.30A>G, XM_047423032.1:c.30A>G, XM_047423031.1:c.30A>G, XM_011518409.1:c.30A>G

Select item 145570636216.

rs1455706362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:126833199 (GRCh38)
9:129595478 (GRCh37)
Canonical SPDI:: NC_000009.12:126833198:C:A,NC_000009.12:126833198:C:G
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.126833199C>A, NC_000009.12:g.126833199C>G, NC_000009.11:g.129595478C>A, NC_000009.11:g.129595478C>G, XM_005251835.4:c.690C>A, XM_005251835.4:c.690C>G, XM_005251835.3:c.690C>A, XM_005251835.3:c.690C>G, XM_005251835.2:c.690C>A, XM_005251835.2:c.690C>G, XM_005251835.1:c.690C>A, XM_005251835.1:c.690C>G, NM_014007.4:c.690C>A, NM_014007.4:c.690C>G, NM_014007.3:c.690C>A, NM_014007.3:c.690C>G, XM_011518411.3:c.690C>A, XM_011518411.3:c.690C>G, XM_011518411.2:c.690C>A, XM_011518411.2:c.690C>G, XM_011518411.1:c.690C>A, XM_011518411.1:c.690C>G, NM_001135776.2:c.690C>A, NM_001135776.2:c.690C>G, NM_001135776.1:c.690C>A, NM_001135776.1:c.690C>G, XM_047423032.1:c.690C>A, XM_047423032.1:c.690C>G, XM_047423031.1:c.690C>A, XM_047423031.1:c.690C>G, XM_011518409.1:c.690C>A, XM_011518409.1:c.690C>G

Select item 145518898417.

rs1455188984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:126832764 (GRCh38)
9:129595043 (GRCh37)
Canonical SPDI:: NC_000009.12:126832763:C:A
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.126832764C>A, NC_000009.11:g.129595043C>A, XM_005251835.4:c.255C>A, XM_005251835.3:c.255C>A, XM_005251835.2:c.255C>A, XM_005251835.1:c.255C>A, NM_014007.4:c.255C>A, NM_014007.3:c.255C>A, XM_011518411.3:c.255C>A, XM_011518411.2:c.255C>A, XM_011518411.1:c.255C>A, NM_001135776.2:c.255C>A, NM_001135776.1:c.255C>A, XM_047423032.1:c.255C>A, XM_047423031.1:c.255C>A, XM_011518409.1:c.255C>A

Select item 144960518218.

rs1449605182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:126833006 (GRCh38)
9:129595285 (GRCh37)
Canonical SPDI:: NC_000009.12:126833005:C:A,NC_000009.12:126833005:C:T
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.126833006C>A, NC_000009.12:g.126833006C>T, NC_000009.11:g.129595285C>A, NC_000009.11:g.129595285C>T, XM_005251835.4:c.497C>A, XM_005251835.4:c.497C>T, XM_005251835.3:c.497C>A, XM_005251835.3:c.497C>T, XM_005251835.2:c.497C>A, XM_005251835.2:c.497C>T, XM_005251835.1:c.497C>A, XM_005251835.1:c.497C>T, NM_014007.4:c.497C>A, NM_014007.4:c.497C>T, NM_014007.3:c.497C>A, NM_014007.3:c.497C>T, XM_011518411.3:c.497C>A, XM_011518411.3:c.497C>T, XM_011518411.2:c.497C>A, XM_011518411.2:c.497C>T, XM_011518411.1:c.497C>A, XM_011518411.1:c.497C>T, NM_001135776.2:c.497C>A, NM_001135776.2:c.497C>T, NM_001135776.1:c.497C>A, NM_001135776.1:c.497C>T, XM_047423032.1:c.497C>A, XM_047423032.1:c.497C>T, XM_047423031.1:c.497C>A, XM_047423031.1:c.497C>T, XM_011518409.1:c.497C>A, XM_011518409.1:c.497C>T, XP_005251892.1:p.Pro166His, XP_005251892.1:p.Pro166Leu, NP_054726.1:p.Pro166His, NP_054726.1:p.Pro166Leu, XP_011516713.1:p.Pro166His, XP_011516713.1:p.Pro166Leu, NP_001129248.1:p.Pro166His, NP_001129248.1:p.Pro166Leu, XP_047278988.1:p.Pro166His, XP_047278988.1:p.Pro166Leu, XP_047278987.1:p.Pro166His, XP_047278987.1:p.Pro166Leu, XP_011516711.1:p.Pro166His, XP_011516711.1:p.Pro166Leu

Select item 144631084719.

rs1446310847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:126833889 (GRCh38)
9:129596168 (GRCh37)
Canonical SPDI:: NC_000009.12:126833888:G:A
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.126833889G>A, NC_000009.11:g.129596168G>A, XM_005251835.4:c.1380G>A, XM_005251835.3:c.1380G>A, XM_005251835.2:c.1380G>A, XM_005251835.1:c.1380G>A, NM_014007.4:c.1380G>A, NM_014007.3:c.1380G>A, XM_011518411.3:c.1380G>A, XM_011518411.2:c.1380G>A, XM_011518411.1:c.1380G>A, NM_001135776.2:c.1380G>A, NM_001135776.1:c.1380G>A, XM_047423032.1:c.1380G>A, XM_047423031.1:c.1380G>A, XM_011518409.1:c.1380G>A

Select item 144086462420.

rs1440864624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:126833793 (GRCh38)
9:129596072 (GRCh37)
Canonical SPDI:: NC_000009.12:126833792:T:C
Gene:: ZBTB43 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.126833793T>C, NC_000009.11:g.129596072T>C, XM_005251835.4:c.1284T>C, XM_005251835.3:c.1284T>C, XM_005251835.2:c.1284T>C, XM_005251835.1:c.1284T>C, NM_014007.4:c.1284T>C, NM_014007.3:c.1284T>C, XM_011518411.3:c.1284T>C, XM_011518411.2:c.1284T>C, XM_011518411.1:c.1284T>C, NM_001135776.2:c.1284T>C, NM_001135776.1:c.1284T>C, XM_047423032.1:c.1284T>C, XM_047423031.1:c.1284T>C, XM_011518409.1:c.1284T>C

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Result Filters

Validation Status

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 357

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