SNP Links for Gene (Select 147694) - SNP

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Items: 1 to 20 of 3699

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Select item 14915479111.

rs1491547911 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:57393719 (GRCh38)
19:57905087 (GRCh37)
Canonical SPDI:: NC_000019.10:57393718:CA:
Gene:: ZNF548 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.57393719_57393720del, NC_000019.9:g.57905087_57905088del

Select item 14912518562.

rs1491251856 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGAG [Show Flanks]
Chromosome:: 19:57393719 (GRCh38)
19:57905088 (GRCh37)
Canonical SPDI:: NC_000019.10:57393719:AGGGGAGGGGAGGGGAG:AGGGGAGGGGAGGGGAGGGGAG
Gene:: ZNF548 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGGGGAGGGGAGGGGAGGGGAG=0./0 (ALFA)
HGVS:: NC_000019.10:g.57393722GGGAG[4], NC_000019.9:g.57905090GGGAG[4]

Select item 14908295963.

rs1490829596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57397440 (GRCh38)
19:57908808 (GRCh37)
Canonical SPDI:: NC_000019.10:57397439:G:T
Gene:: ZNF548 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.57397440G>T, NC_000019.9:g.57908808G>T

Select item 14907779214.

rs1490777921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57396557 (GRCh38)
19:57907925 (GRCh37)
Canonical SPDI:: NC_000019.10:57396556:T:C
Gene:: ZNF548 (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)
HGVS:: NC_000019.10:g.57396557T>C, NC_000019.9:g.57907925T>C

Select item 14906658785.

rs1490665878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57399003 (GRCh38)
19:57910371 (GRCh37)
Canonical SPDI:: NC_000019.10:57399002:A:G
Gene:: ZNF548 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57399003A>G, NC_000019.9:g.57910371A>G, NM_152909.4:c.716A>G, NM_152909.3:c.716A>G, NM_001172773.2:c.752A>G, NM_001172773.1:c.752A>G, NP_690873.2:p.Asn239Ser, NP_001166244.1:p.Asn251Ser

Select item 14906289206.

rs1490628920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:57396860 (GRCh38)
19:57908228 (GRCh37)
Canonical SPDI:: NC_000019.10:57396859:T:A
Gene:: ZNF548 (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_000019.10:g.57396860T>A, NC_000019.9:g.57908228T>A

Select item 14902681597.

rs1490268159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:57391327 (GRCh38)
19:57902695 (GRCh37)
Canonical SPDI:: NC_000019.10:57391326:T:G
Gene:: ZNF548 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57391327T>G, NC_000019.9:g.57902695T>G

Select item 14898470588.

rs1489847058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:57392758 (GRCh38)
19:57904126 (GRCh37)
Canonical SPDI:: NC_000019.10:57392757:A:T
Gene:: ZNF548 (Varview)
Functional Consequence:: intron_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_000019.10:g.57392758A>T, NC_000019.9:g.57904126A>T

Select item 14897827079.

rs1489782707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57402716 (GRCh38)
19:57914084 (GRCh37)
Canonical SPDI:: NC_000019.10:57402715:G:T
Gene:: ZNF548 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57402716G>T, NC_000019.9:g.57914084G>T, NM_152909.4:c.*2827G>T, NM_001172773.2:c.*2827G>T

Select item 148957823810.

rs1489578238 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTG>- [Show Flanks]
Chromosome:: 19:57399681 (GRCh38)
19:57911049 (GRCh37)
Canonical SPDI:: NC_000019.10:57399677:TTGTTG:TTG
Gene:: ZNF548 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57399678TTG[1], NC_000019.9:g.57911046TTG[1], NM_152909.4:c.1391TTG[1], NM_152909.3:c.1391TTG[1], NM_001172773.2:c.1427TTG[1], NM_001172773.1:c.1427TTG[1], NP_690873.2:p.Val465del, NP_001166244.1:p.Val477del

Select item 148956850611.

rs1489568506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57399014 (GRCh38)
19:57910382 (GRCh37)
Canonical SPDI:: NC_000019.10:57399013:C:T
Gene:: ZNF548 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.57399014C>T, NC_000019.9:g.57910382C>T, NM_152909.4:c.727C>T, NM_152909.3:c.727C>T, NM_001172773.2:c.763C>T, NM_001172773.1:c.763C>T, NP_690873.2:p.His243Tyr, NP_001166244.1:p.His255Tyr

Select item 148932688712.

rs1489326887 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:57399357 (GRCh38)
19:57910725 (GRCh37)
Canonical SPDI:: NC_000019.10:57399353:AGAGA:AGA
Gene:: ZNF548 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57399355GA[1], NC_000019.9:g.57910723GA[1], NM_152909.4:c.1070_1071del, NM_152909.3:c.1070_1071del, NM_001172773.2:c.1106_1107del, NM_001172773.1:c.1106_1107del, NP_690873.2:p.Arg357fs, NP_001166244.1:p.Arg369fs

Select item 148894487913.

rs1488944879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57395949 (GRCh38)
19:57907317 (GRCh37)
Canonical SPDI:: NC_000019.10:57395948:A:G
Gene:: ZNF548 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57395949A>G, NC_000019.9:g.57907317A>G

Select item 148889332814.

rs1488893328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:57394687 (GRCh38)
19:57906055 (GRCh37)
Canonical SPDI:: NC_000019.10:57394686:T:G
Gene:: ZNF548 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57394687T>G, NC_000019.9:g.57906055T>G

Select item 148864238615.

rs1488642386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57390919 (GRCh38)
19:57902287 (GRCh37)
Canonical SPDI:: NC_000019.10:57390918:G:A
Gene:: ZNF548 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57390919G>A, NC_000019.9:g.57902287G>A

Select item 148835500516.

rs1488355005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:57400804 (GRCh38)
19:57912172 (GRCh37)
Canonical SPDI:: NC_000019.10:57400803:A:C
Gene:: ZNF548 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57400804A>C, NC_000019.9:g.57912172A>C, NM_152909.4:c.*915A>C, NM_152909.3:c.*915A>C, NM_001172773.2:c.*915A>C, NM_001172773.1:c.*915A>C

Select item 148833333917.

rs1488333339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:57392006 (GRCh38)
19:57903374 (GRCh37)
Canonical SPDI:: NC_000019.10:57392005:C:A,NC_000019.10:57392005:C:T
Gene:: ZNF548 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003372/40 (ALFA)
T=0.000081/11 (GnomAD)
T=0.000312/2 (1000Genomes)
T=0.006845/20 (KOREAN)
T=0.019105/35 (Korea1K)
HGVS:: NC_000019.10:g.57392006C>A, NC_000019.10:g.57392006C>T, NC_000019.9:g.57903374C>A, NC_000019.9:g.57903374C>T

Select item 148793328418.

rs1487933284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57399553 (GRCh38)
19:57910921 (GRCh37)
Canonical SPDI:: NC_000019.10:57399552:G:A
Gene:: ZNF548 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.57399553G>A, NC_000019.9:g.57910921G>A, NM_152909.4:c.1266G>A, NM_152909.3:c.1266G>A, NM_001172773.2:c.1302G>A, NM_001172773.1:c.1302G>A

Select item 148770176619.

rs1487701766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:57403218 (GRCh38)
19:57914586 (GRCh37)
Canonical SPDI:: NC_000019.10:57403217:T:A,NC_000019.10:57403217:T:G
Gene:: ZNF548 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000038/10 (TOPMED)
A=0.00005/7 (GnomAD)
G=0.004913/9 (Korea1K)
HGVS:: NC_000019.10:g.57403218T>A, NC_000019.10:g.57403218T>G, NC_000019.9:g.57914586T>A, NC_000019.9:g.57914586T>G

Select item 148761070220.

rs1487610702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57400592 (GRCh38)
19:57911960 (GRCh37)
Canonical SPDI:: NC_000019.10:57400591:C:T
Gene:: ZNF548 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57400592C>T, NC_000019.9:g.57911960C>T, NM_152909.4:c.*703C>T, NM_152909.3:c.*703C>T, NM_001172773.2:c.*703C>T, NM_001172773.1:c.*703C>T

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