SNP Links for Protein (Select 530365943) - SNP

Select item 14908217071.

rs1490821707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:244055238 (GRCh38)
1:244218540 (GRCh37)
Canonical SPDI:: NC_000001.11:244055237:G:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
T=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.244055238G>T, NC_000001.10:g.244218540G>T, NG_033841.1:g.11300G>T, NM_006352.4:c.1437G>T, NM_205768.3:c.1464G>T, NM_205768.2:c.1464G>T, NM_001278196.2:c.1437G>T, NM_001278196.1:c.1437G>T, XM_005273006.3:c.1437G>T, XM_005273006.2:c.1437G>T, XM_005273006.1:c.1437G>T, XM_017000060.2:c.1437G>T, XM_017000060.1:c.1437G>T, XM_047430955.1:c.1437G>T, XM_047430908.1:c.1437G>T, XM_047430924.1:c.1437G>T

Select item 14896764142.

rs1489676414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:244053996 (GRCh38)
1:244217298 (GRCh37)
Canonical SPDI:: NC_000001.11:244053995:G:C,NC_000001.11:244053995:G:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244053996G>C, NC_000001.11:g.244053996G>T, NC_000001.10:g.244217298G>C, NC_000001.10:g.244217298G>T, NG_033841.1:g.10058G>C, NG_033841.1:g.10058G>T, NM_006352.4:c.195G>C, NM_006352.4:c.195G>T, NM_205768.3:c.222G>C, NM_205768.3:c.222G>T, NM_205768.2:c.222G>C, NM_205768.2:c.222G>T, NM_001278196.2:c.195G>C, NM_001278196.2:c.195G>T, NM_001278196.1:c.195G>C, NM_001278196.1:c.195G>T, XM_005273006.3:c.195G>C, XM_005273006.3:c.195G>T, XM_005273006.2:c.195G>C, XM_005273006.2:c.195G>T, XM_005273006.1:c.195G>C, XM_005273006.1:c.195G>T, XM_017000060.2:c.195G>C, XM_017000060.2:c.195G>T, XM_017000060.1:c.195G>C, XM_017000060.1:c.195G>T, XM_047430955.1:c.195G>C, XM_047430955.1:c.195G>T, XM_047430908.1:c.195G>C, XM_047430908.1:c.195G>T, XM_047430924.1:c.195G>C, XM_047430924.1:c.195G>T

Select item 14843979043.

rs1484397904 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGC>- [Show Flanks]
Chromosome:: 1:244054332 (GRCh38)
1:244217634 (GRCh37)
Canonical SPDI:: NC_000001.11:244054328:GGCGGC:GGC
Gene:: ZBTB18 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.244054329GGC[1], NC_000001.10:g.244217631GGC[1], NG_033841.1:g.10391GGC[1], NM_006352.4:c.528GGC[1], NM_205768.3:c.555GGC[1], NM_205768.2:c.555GGC[1], NM_001278196.2:c.528GGC[1], NM_001278196.1:c.528GGC[1], XM_005273006.3:c.528GGC[1], XM_005273006.2:c.528GGC[1], XM_005273006.1:c.528GGC[1], XM_017000060.2:c.528GGC[1], XM_017000060.1:c.528GGC[1], XM_047430955.1:c.528GGC[1], XM_047430908.1:c.528GGC[1], XM_047430924.1:c.528GGC[1], NP_006343.2:p.Ala178del, NP_991331.1:p.Ala187del, NP_001265125.1:p.Ala178del, XP_005273063.1:p.Ala178del, XP_016855549.1:p.Ala178del, XP_047286911.1:p.Ala178del, XP_047286864.1:p.Ala178del, XP_047286880.1:p.Ala178del

Select item 14839594464.

rs1483959446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244054748 (GRCh38)
1:244218050 (GRCh37)
Canonical SPDI:: NC_000001.11:244054747:C:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.244054748C>T, NC_000001.10:g.244218050C>T, NG_033841.1:g.10810C>T, NM_006352.4:c.947C>T, NM_205768.3:c.974C>T, NM_205768.2:c.974C>T, NM_001278196.2:c.947C>T, NM_001278196.1:c.947C>T, XM_005273006.3:c.947C>T, XM_005273006.2:c.947C>T, XM_005273006.1:c.947C>T, XM_017000060.2:c.947C>T, XM_017000060.1:c.947C>T, XM_047430955.1:c.947C>T, XM_047430908.1:c.947C>T, XM_047430924.1:c.947C>T, NP_006343.2:p.Pro316Leu, NP_991331.1:p.Pro325Leu, NP_001265125.1:p.Pro316Leu, XP_005273063.1:p.Pro316Leu, XP_016855549.1:p.Pro316Leu, XP_047286911.1:p.Pro316Leu, XP_047286864.1:p.Pro316Leu, XP_047286880.1:p.Pro316Leu

Select item 14811664365.

rs1481166436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:244053968 (GRCh38)
1:244217270 (GRCh37)
Canonical SPDI:: NC_000001.11:244053967:A:G
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.244053968A>G, NC_000001.10:g.244217270A>G, NG_033841.1:g.10030A>G, NM_006352.4:c.167A>G, NM_205768.3:c.194A>G, NM_205768.2:c.194A>G, NM_001278196.2:c.167A>G, NM_001278196.1:c.167A>G, XM_005273006.3:c.167A>G, XM_005273006.2:c.167A>G, XM_005273006.1:c.167A>G, XM_017000060.2:c.167A>G, XM_017000060.1:c.167A>G, XM_047430955.1:c.167A>G, XM_047430908.1:c.167A>G, XM_047430924.1:c.167A>G, NP_006343.2:p.Gln56Arg, NP_991331.1:p.Gln65Arg, NP_001265125.1:p.Gln56Arg, XP_005273063.1:p.Gln56Arg, XP_016855549.1:p.Gln56Arg, XP_047286911.1:p.Gln56Arg, XP_047286864.1:p.Gln56Arg, XP_047286880.1:p.Gln56Arg

Select item 14751017006.

rs1475101700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:244054758 (GRCh38)
1:244218060 (GRCh37)
Canonical SPDI:: NC_000001.11:244054757:G:A
Gene:: ZBTB18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.244054758G>A, NC_000001.10:g.244218060G>A, NG_033841.1:g.10820G>A, NM_006352.4:c.957G>A, NM_205768.3:c.984G>A, NM_205768.2:c.984G>A, NM_001278196.2:c.957G>A, NM_001278196.1:c.957G>A, XM_005273006.3:c.957G>A, XM_005273006.2:c.957G>A, XM_005273006.1:c.957G>A, XM_017000060.2:c.957G>A, XM_017000060.1:c.957G>A, XM_047430955.1:c.957G>A, XM_047430908.1:c.957G>A, XM_047430924.1:c.957G>A

Select item 14719109327.

rs1471910932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244054205 (GRCh38)
1:244217507 (GRCh37)
Canonical SPDI:: NC_000001.11:244054204:C:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.244054205C>T, NC_000001.10:g.244217507C>T, NG_033841.1:g.10267C>T, NM_006352.4:c.404C>T, NM_205768.3:c.431C>T, NM_205768.2:c.431C>T, NM_001278196.2:c.404C>T, NM_001278196.1:c.404C>T, XM_005273006.3:c.404C>T, XM_005273006.2:c.404C>T, XM_005273006.1:c.404C>T, XM_017000060.2:c.404C>T, XM_017000060.1:c.404C>T, XM_047430955.1:c.404C>T, XM_047430908.1:c.404C>T, XM_047430924.1:c.404C>T, NP_006343.2:p.Ser135Leu, NP_991331.1:p.Ser144Leu, NP_001265125.1:p.Ser135Leu, XP_005273063.1:p.Ser135Leu, XP_016855549.1:p.Ser135Leu, XP_047286911.1:p.Ser135Leu, XP_047286864.1:p.Ser135Leu, XP_047286880.1:p.Ser135Leu

Select item 14692046778.

rs1469204677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:244054229 (GRCh38)
1:244217531 (GRCh37)
Canonical SPDI:: NC_000001.11:244054228:G:C
Gene:: ZBTB18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.244054229G>C, NC_000001.10:g.244217531G>C, NG_033841.1:g.10291G>C, NM_006352.4:c.428G>C, NM_205768.3:c.455G>C, NM_205768.2:c.455G>C, NM_001278196.2:c.428G>C, NM_001278196.1:c.428G>C, XM_005273006.3:c.428G>C, XM_005273006.2:c.428G>C, XM_005273006.1:c.428G>C, XM_017000060.2:c.428G>C, XM_017000060.1:c.428G>C, XM_047430955.1:c.428G>C, XM_047430908.1:c.428G>C, XM_047430924.1:c.428G>C, NP_006343.2:p.Ser143Thr, NP_991331.1:p.Ser152Thr, NP_001265125.1:p.Ser143Thr, XP_005273063.1:p.Ser143Thr, XP_016855549.1:p.Ser143Thr, XP_047286911.1:p.Ser143Thr, XP_047286864.1:p.Ser143Thr, XP_047286880.1:p.Ser143Thr

Select item 14618071419.

rs1461807141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:244054165 (GRCh38)
1:244217467 (GRCh37)
Canonical SPDI:: NC_000001.11:244054164:A:G
Gene:: ZBTB18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.244054165A>G, NC_000001.10:g.244217467A>G, NG_033841.1:g.10227A>G, NM_006352.4:c.364A>G, NM_205768.3:c.391A>G, NM_205768.2:c.391A>G, NM_001278196.2:c.364A>G, NM_001278196.1:c.364A>G, XM_005273006.3:c.364A>G, XM_005273006.2:c.364A>G, XM_005273006.1:c.364A>G, XM_017000060.2:c.364A>G, XM_017000060.1:c.364A>G, XM_047430955.1:c.364A>G, XM_047430908.1:c.364A>G, XM_047430924.1:c.364A>G, NP_006343.2:p.Thr122Ala, NP_991331.1:p.Thr131Ala, NP_001265125.1:p.Thr122Ala, XP_005273063.1:p.Thr122Ala, XP_016855549.1:p.Thr122Ala, XP_047286911.1:p.Thr122Ala, XP_047286864.1:p.Thr122Ala, XP_047286880.1:p.Thr122Ala

Select item 146156747310.

rs1461567473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:244054243 (GRCh38)
1:244217545 (GRCh37)
Canonical SPDI:: NC_000001.11:244054242:A:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244054243A>T, NC_000001.10:g.244217545A>T, NG_033841.1:g.10305A>T, NM_006352.4:c.442A>T, NM_205768.3:c.469A>T, NM_205768.2:c.469A>T, NM_001278196.2:c.442A>T, NM_001278196.1:c.442A>T, XM_005273006.3:c.442A>T, XM_005273006.2:c.442A>T, XM_005273006.1:c.442A>T, XM_017000060.2:c.442A>T, XM_017000060.1:c.442A>T, XM_047430955.1:c.442A>T, XM_047430908.1:c.442A>T, XM_047430924.1:c.442A>T, NP_006343.2:p.Ser148Cys, NP_991331.1:p.Ser157Cys, NP_001265125.1:p.Ser148Cys, XP_005273063.1:p.Ser148Cys, XP_016855549.1:p.Ser148Cys, XP_047286911.1:p.Ser148Cys, XP_047286864.1:p.Ser148Cys, XP_047286880.1:p.Ser148Cys

Select item 145864169911.

rs1458641699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:244054008 (GRCh38)
1:244217310 (GRCh37)
Canonical SPDI:: NC_000001.11:244054007:T:C
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244054008T>C, NC_000001.10:g.244217310T>C, NG_033841.1:g.10070T>C, NM_006352.4:c.207T>C, NM_205768.3:c.234T>C, NM_205768.2:c.234T>C, NM_001278196.2:c.207T>C, NM_001278196.1:c.207T>C, XM_005273006.3:c.207T>C, XM_005273006.2:c.207T>C, XM_005273006.1:c.207T>C, XM_017000060.2:c.207T>C, XM_017000060.1:c.207T>C, XM_047430955.1:c.207T>C, XM_047430908.1:c.207T>C, XM_047430924.1:c.207T>C

Select item 145622554512.

rs1456225545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:244054059 (GRCh38)
1:244217361 (GRCh37)
Canonical SPDI:: NC_000001.11:244054058:A:G
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244054059A>G, NC_000001.10:g.244217361A>G, NG_033841.1:g.10121A>G, NM_006352.4:c.258A>G, NM_205768.3:c.285A>G, NM_205768.2:c.285A>G, NM_001278196.2:c.258A>G, NM_001278196.1:c.258A>G, XM_005273006.3:c.258A>G, XM_005273006.2:c.258A>G, XM_005273006.1:c.258A>G, XM_017000060.2:c.258A>G, XM_017000060.1:c.258A>G, XM_047430955.1:c.258A>G, XM_047430908.1:c.258A>G, XM_047430924.1:c.258A>G

Select item 145617752613.

rs1456177526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:244054905 (GRCh38)
1:244218207 (GRCh37)
Canonical SPDI:: NC_000001.11:244054904:G:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.244054905G>T, NC_000001.10:g.244218207G>T, NG_033841.1:g.10967G>T, NM_006352.4:c.1104G>T, NM_205768.3:c.1131G>T, NM_205768.2:c.1131G>T, NM_001278196.2:c.1104G>T, NM_001278196.1:c.1104G>T, XM_005273006.3:c.1104G>T, XM_005273006.2:c.1104G>T, XM_005273006.1:c.1104G>T, XM_017000060.2:c.1104G>T, XM_017000060.1:c.1104G>T, XM_047430955.1:c.1104G>T, XM_047430908.1:c.1104G>T, XM_047430924.1:c.1104G>T, NP_006343.2:p.Gln368His, NP_991331.1:p.Gln377His, NP_001265125.1:p.Gln368His, XP_005273063.1:p.Gln368His, XP_016855549.1:p.Gln368His, XP_047286911.1:p.Gln368His, XP_047286864.1:p.Gln368His, XP_047286880.1:p.Gln368His

Select item 145475539314.

rs1454755393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:244054490 (GRCh38)
1:244217792 (GRCh37)
Canonical SPDI:: NC_000001.11:244054489:T:G
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.244054490T>G, NC_000001.10:g.244217792T>G, NG_033841.1:g.10552T>G, NM_006352.4:c.689T>G, NM_205768.3:c.716T>G, NM_205768.2:c.716T>G, NM_001278196.2:c.689T>G, NM_001278196.1:c.689T>G, XM_005273006.3:c.689T>G, XM_005273006.2:c.689T>G, XM_005273006.1:c.689T>G, XM_017000060.2:c.689T>G, XM_017000060.1:c.689T>G, XM_047430955.1:c.689T>G, XM_047430908.1:c.689T>G, XM_047430924.1:c.689T>G, NP_006343.2:p.Val230Gly, NP_991331.1:p.Val239Gly, NP_001265125.1:p.Val230Gly, XP_005273063.1:p.Val230Gly, XP_016855549.1:p.Val230Gly, XP_047286911.1:p.Val230Gly, XP_047286864.1:p.Val230Gly, XP_047286880.1:p.Val230Gly

Select item 145281466715.

rs1452814667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:244054943 (GRCh38)
1:244218245 (GRCh37)
Canonical SPDI:: NC_000001.11:244054942:G:A
Gene:: ZBTB18 (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.244054943G>A, NC_000001.10:g.244218245G>A, NG_033841.1:g.11005G>A, NM_006352.4:c.1142G>A, NM_205768.3:c.1169G>A, NM_205768.2:c.1169G>A, NM_001278196.2:c.1142G>A, NM_001278196.1:c.1142G>A, XM_005273006.3:c.1142G>A, XM_005273006.2:c.1142G>A, XM_005273006.1:c.1142G>A, XM_017000060.2:c.1142G>A, XM_017000060.1:c.1142G>A, XM_047430955.1:c.1142G>A, XM_047430908.1:c.1142G>A, XM_047430924.1:c.1142G>A, NP_006343.2:p.Ser381Asn, NP_991331.1:p.Ser390Asn, NP_001265125.1:p.Ser381Asn, XP_005273063.1:p.Ser381Asn, XP_016855549.1:p.Ser381Asn, XP_047286911.1:p.Ser381Asn, XP_047286864.1:p.Ser381Asn, XP_047286880.1:p.Ser381Asn

Select item 145269287216.

rs1452692872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244054403 (GRCh38)
1:244217705 (GRCh37)
Canonical SPDI:: NC_000001.11:244054402:C:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244054403C>T, NC_000001.10:g.244217705C>T, NG_033841.1:g.10465C>T, NM_006352.4:c.602C>T, NM_205768.3:c.629C>T, NM_205768.2:c.629C>T, NM_001278196.2:c.602C>T, NM_001278196.1:c.602C>T, XM_005273006.3:c.602C>T, XM_005273006.2:c.602C>T, XM_005273006.1:c.602C>T, XM_017000060.2:c.602C>T, XM_017000060.1:c.602C>T, XM_047430955.1:c.602C>T, XM_047430908.1:c.602C>T, XM_047430924.1:c.602C>T, NP_006343.2:p.Ala201Val, NP_991331.1:p.Ala210Val, NP_001265125.1:p.Ala201Val, XP_005273063.1:p.Ala201Val, XP_016855549.1:p.Ala201Val, XP_047286911.1:p.Ala201Val, XP_047286864.1:p.Ala201Val, XP_047286880.1:p.Ala201Val

Select item 145265321417.

rs1452653214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:244053891 (GRCh38)
1:244217193 (GRCh37)
Canonical SPDI:: NC_000001.11:244053890:G:A,NC_000001.11:244053890:G:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.244053891G>A, NC_000001.11:g.244053891G>T, NC_000001.10:g.244217193G>A, NC_000001.10:g.244217193G>T, NG_033841.1:g.9953G>A, NG_033841.1:g.9953G>T, NM_006352.4:c.90G>A, NM_006352.4:c.90G>T, NM_205768.3:c.117G>A, NM_205768.3:c.117G>T, NM_205768.2:c.117G>A, NM_205768.2:c.117G>T, NM_001278196.2:c.90G>A, NM_001278196.2:c.90G>T, NM_001278196.1:c.90G>A, NM_001278196.1:c.90G>T, XM_005273006.3:c.90G>A, XM_005273006.3:c.90G>T, XM_005273006.2:c.90G>A, XM_005273006.2:c.90G>T, XM_005273006.1:c.90G>A, XM_005273006.1:c.90G>T, XM_017000060.2:c.90G>A, XM_017000060.2:c.90G>T, XM_017000060.1:c.90G>A, XM_017000060.1:c.90G>T, XM_047430955.1:c.90G>A, XM_047430955.1:c.90G>T, XM_047430908.1:c.90G>A, XM_047430908.1:c.90G>T, XM_047430924.1:c.90G>A, XM_047430924.1:c.90G>T

Select item 144899462118.

rs1448994621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:244054110 (GRCh38)
1:244217412 (GRCh37)
Canonical SPDI:: NC_000001.11:244054109:T:C
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244054110T>C, NC_000001.10:g.244217412T>C, NG_033841.1:g.10172T>C, NM_006352.4:c.309T>C, NM_205768.3:c.336T>C, NM_205768.2:c.336T>C, NM_001278196.2:c.309T>C, NM_001278196.1:c.309T>C, XM_005273006.3:c.309T>C, XM_005273006.2:c.309T>C, XM_005273006.1:c.309T>C, XM_017000060.2:c.309T>C, XM_017000060.1:c.309T>C, XM_047430955.1:c.309T>C, XM_047430908.1:c.309T>C, XM_047430924.1:c.309T>C

Select item 144306476519.

rs1443064765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244054749 (GRCh38)
1:244218051 (GRCh37)
Canonical SPDI:: NC_000001.11:244054748:C:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000177/3 (TOMMO)
HGVS:: NC_000001.11:g.244054749C>T, NC_000001.10:g.244218051C>T, NG_033841.1:g.10811C>T, NM_006352.4:c.948C>T, NM_205768.3:c.975C>T, NM_205768.2:c.975C>T, NM_001278196.2:c.948C>T, NM_001278196.1:c.948C>T, XM_005273006.3:c.948C>T, XM_005273006.2:c.948C>T, XM_005273006.1:c.948C>T, XM_017000060.2:c.948C>T, XM_017000060.1:c.948C>T, XM_047430955.1:c.948C>T, XM_047430908.1:c.948C>T, XM_047430924.1:c.948C>T

Select item 143870593420.

rs1438705934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244054954 (GRCh38)
1:244218256 (GRCh37)
Canonical SPDI:: NC_000001.11:244054953:C:T
Gene:: ZBTB18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244054954C>T, NC_000001.10:g.244218256C>T, NG_033841.1:g.11016C>T, NM_006352.4:c.1153C>T, NM_205768.3:c.1180C>T, NM_205768.2:c.1180C>T, NM_001278196.2:c.1153C>T, NM_001278196.1:c.1153C>T, XM_005273006.3:c.1153C>T, XM_005273006.2:c.1153C>T, XM_005273006.1:c.1153C>T, XM_017000060.2:c.1153C>T, XM_017000060.1:c.1153C>T, XM_047430955.1:c.1153C>T, XM_047430908.1:c.1153C>T, XM_047430924.1:c.1153C>T

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Result Filters

Clinical Significance

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Items: 1 to 20 of 413

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