SNP Links for Protein (Select 1042818153) - SNP

Select item 14891771821.

rs1489177182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:44643521 (GRCh38)
3:44685013 (GRCh37)
Canonical SPDI:: NC_000003.12:44643520:A:C
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
HGVS:: NC_000003.12:g.44643521A>C, NC_000003.11:g.44685013A>C, NW_009646197.1:g.168875A>C, NM_006991.5:c.2391A>C, NM_006991.4:c.2391A>C, NM_006991.3:c.2391A>C, NM_001323295.2:c.1782A>C, NM_001323295.1:c.1782A>C, NR_147692.2:n.2758A>C, NR_147692.1:n.2872A>C, NM_001351733.2:c.2391A>C, NM_001351733.1:c.2391A>C, NM_001351732.2:c.2391A>C, NM_001351732.1:c.2391A>C, NM_001323293.2:c.2391A>C, NM_001323293.1:c.2391A>C, NM_001323296.2:c.1752A>C, NM_001323296.1:c.1752A>C, NP_008922.1:p.Lys797Asn, NP_001310224.1:p.Lys594Asn, NP_001338662.1:p.Lys797Asn, NP_001338661.1:p.Lys797Asn, NP_001310222.1:p.Lys797Asn, NP_001310225.1:p.Lys584Asn

Select item 14869031622.

rs1486903162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44632579 (GRCh38)
3:44674071 (GRCh37)
Canonical SPDI:: NC_000003.12:44632578:A:G
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.44632579A>G, NC_000003.11:g.44674071A>G, NW_009646197.1:g.157933A>G, NM_006991.5:c.749A>G, NM_006991.4:c.749A>G, NM_006991.3:c.749A>G, NM_001024855.3:c.749A>G, NM_001024855.2:c.749A>G, NM_001024855.1:c.749A>G, NM_001323295.2:c.140A>G, NM_001323295.1:c.140A>G, NM_001351733.2:c.749A>G, NM_001351733.1:c.749A>G, NM_001351732.2:c.749A>G, NM_001351732.1:c.749A>G, NM_001323293.2:c.749A>G, NM_001323293.1:c.749A>G, NM_001323296.2:c.110A>G, NM_001323296.1:c.110A>G, NR_147691.2:n.1116A>G, NR_147691.1:n.1230A>G, NR_136582.2:n.1071A>G, NR_136582.1:n.1088A>G, NM_001351735.2:c.749A>G, NM_001351735.1:c.749A>G, NM_001351734.2:c.749A>G, NM_001351734.1:c.749A>G, NM_001323294.2:c.749A>G, NM_001323294.1:c.749A>G, NR_147692.2:n.1116A>G, NR_147692.1:n.1230A>G, NP_008922.1:p.Tyr250Cys, NP_001020026.1:p.Tyr250Cys, NP_001310224.1:p.Tyr47Cys, NP_001338662.1:p.Tyr250Cys, NP_001338661.1:p.Tyr250Cys, NP_001310222.1:p.Tyr250Cys, NP_001310225.1:p.Tyr37Cys, NP_001338664.1:p.Tyr250Cys, NP_001338663.1:p.Tyr250Cys, NP_001310223.1:p.Tyr250Cys

Select item 14866778383.

rs1486677838 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:44642493 (GRCh38)
3:44683986 (GRCh37)
Canonical SPDI:: NC_000003.12:44642493::T
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.44642493_44642494insT, NC_000003.11:g.44683985_44683986insT, NW_009646197.1:g.167847_167848insT, NM_006991.5:c.1363_1364insT, NM_006991.4:c.1363_1364insT, NM_006991.3:c.1363_1364insT, NM_001323295.2:c.754_755insT, NM_001323295.1:c.754_755insT, NR_147692.2:n.1730_1731insT, NR_147692.1:n.1844_1845insT, NM_001351733.2:c.1363_1364insT, NM_001351733.1:c.1363_1364insT, NM_001351732.2:c.1363_1364insT, NM_001351732.1:c.1363_1364insT, NM_001323293.2:c.1363_1364insT, NM_001323293.1:c.1363_1364insT, NM_001323296.2:c.724_725insT, NM_001323296.1:c.724_725insT, NP_008922.1:p.Lys455fs, NP_001310224.1:p.Lys252fs, NP_001338662.1:p.Lys455fs, NP_001338661.1:p.Lys455fs, NP_001310222.1:p.Lys455fs, NP_001310225.1:p.Lys242fs

Select item 14847299924.

rs1484729992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:44632587 (GRCh38)
3:44674079 (GRCh37)
Canonical SPDI:: NC_000003.12:44632586:G:A,NC_000003.12:44632586:G:C
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.44632587G>A, NC_000003.12:g.44632587G>C, NC_000003.11:g.44674079G>A, NC_000003.11:g.44674079G>C, NW_009646197.1:g.157941G>A, NW_009646197.1:g.157941G>C, NM_006991.5:c.757G>A, NM_006991.5:c.757G>C, NM_006991.4:c.757G>A, NM_006991.4:c.757G>C, NM_006991.3:c.757G>A, NM_006991.3:c.757G>C, NM_001024855.3:c.757G>A, NM_001024855.3:c.757G>C, NM_001024855.2:c.757G>A, NM_001024855.2:c.757G>C, NM_001024855.1:c.757G>A, NM_001024855.1:c.757G>C, NM_001323295.2:c.148G>A, NM_001323295.2:c.148G>C, NM_001323295.1:c.148G>A, NM_001323295.1:c.148G>C, NM_001351733.2:c.757G>A, NM_001351733.2:c.757G>C, NM_001351733.1:c.757G>A, NM_001351733.1:c.757G>C, NM_001351732.2:c.757G>A, NM_001351732.2:c.757G>C, NM_001351732.1:c.757G>A, NM_001351732.1:c.757G>C, NM_001323293.2:c.757G>A, NM_001323293.2:c.757G>C, NM_001323293.1:c.757G>A, NM_001323293.1:c.757G>C, NM_001323296.2:c.118G>A, NM_001323296.2:c.118G>C, NM_001323296.1:c.118G>A, NM_001323296.1:c.118G>C, NR_147691.2:n.1124G>A, NR_147691.2:n.1124G>C, NR_147691.1:n.1238G>A, NR_147691.1:n.1238G>C, NR_136582.2:n.1079G>A, NR_136582.2:n.1079G>C, NR_136582.1:n.1096G>A, NR_136582.1:n.1096G>C, NM_001351735.2:c.757G>A, NM_001351735.2:c.757G>C, NM_001351735.1:c.757G>A, NM_001351735.1:c.757G>C, NM_001351734.2:c.757G>A, NM_001351734.2:c.757G>C, NM_001351734.1:c.757G>A, NM_001351734.1:c.757G>C, NM_001323294.2:c.757G>A, NM_001323294.2:c.757G>C, NM_001323294.1:c.757G>A, NM_001323294.1:c.757G>C, NR_147692.2:n.1124G>A, NR_147692.2:n.1124G>C, NR_147692.1:n.1238G>A, NR_147692.1:n.1238G>C, NP_008922.1:p.Val253Met, NP_008922.1:p.Val253Leu, NP_001020026.1:p.Val253Met, NP_001020026.1:p.Val253Leu, NP_001310224.1:p.Val50Met, NP_001310224.1:p.Val50Leu, NP_001338662.1:p.Val253Met, NP_001338662.1:p.Val253Leu, NP_001338661.1:p.Val253Met, NP_001338661.1:p.Val253Leu, NP_001310222.1:p.Val253Met, NP_001310222.1:p.Val253Leu, NP_001310225.1:p.Val40Met, NP_001310225.1:p.Val40Leu, NP_001338664.1:p.Val253Met, NP_001338664.1:p.Val253Leu, NP_001338663.1:p.Val253Met, NP_001338663.1:p.Val253Leu, NP_001310223.1:p.Val253Met, NP_001310223.1:p.Val253Leu

Select item 14838702985.

rs1483870298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44643508 (GRCh38)
3:44685000 (GRCh37)
Canonical SPDI:: NC_000003.12:44643507:A:G
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_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_000003.12:g.44643508A>G, NC_000003.11:g.44685000A>G, NW_009646197.1:g.168862A>G, NM_006991.5:c.2378A>G, NM_006991.4:c.2378A>G, NM_006991.3:c.2378A>G, NM_001323295.2:c.1769A>G, NM_001323295.1:c.1769A>G, NM_001351733.2:c.2378A>G, NM_001351733.1:c.2378A>G, NM_001351732.2:c.2378A>G, NM_001351732.1:c.2378A>G, NM_001323293.2:c.2378A>G, NM_001323293.1:c.2378A>G, NM_001323296.2:c.1739A>G, NM_001323296.1:c.1739A>G, NR_147692.2:n.2745A>G, NR_147692.1:n.2859A>G, NP_008922.1:p.Asp793Gly, NP_001310224.1:p.Asp590Gly, NP_001338662.1:p.Asp793Gly, NP_001338661.1:p.Asp793Gly, NP_001310222.1:p.Asp793Gly, NP_001310225.1:p.Asp580Gly

Select item 14828243686.

rs1482824368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:44643377 (GRCh38)
3:44684869 (GRCh37)
Canonical SPDI:: NC_000003.12:44643376:G:A
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_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_000003.12:g.44643377G>A, NC_000003.11:g.44684869G>A, NW_009646197.1:g.168731G>A, NM_006991.5:c.2247G>A, NM_006991.4:c.2247G>A, NM_006991.3:c.2247G>A, NM_001323295.2:c.1638G>A, NM_001323295.1:c.1638G>A, NM_001351733.2:c.2247G>A, NM_001351733.1:c.2247G>A, NM_001351732.2:c.2247G>A, NM_001351732.1:c.2247G>A, NM_001323293.2:c.2247G>A, NM_001323293.1:c.2247G>A, NM_001323296.2:c.1608G>A, NM_001323296.1:c.1608G>A, NR_147692.2:n.2614G>A, NR_147692.1:n.2728G>A

Select item 14823683497.

rs1482368349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:44642579 (GRCh38)
3:44684071 (GRCh37)
Canonical SPDI:: NC_000003.12:44642578:G:A
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_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_000003.12:g.44642579G>A, NC_000003.11:g.44684071G>A, NW_009646197.1:g.167933G>A, NM_006991.5:c.1449G>A, NM_006991.4:c.1449G>A, NM_006991.3:c.1449G>A, NM_001323295.2:c.840G>A, NM_001323295.1:c.840G>A, NM_001351733.2:c.1449G>A, NM_001351733.1:c.1449G>A, NM_001351732.2:c.1449G>A, NM_001351732.1:c.1449G>A, NM_001323293.2:c.1449G>A, NM_001323293.1:c.1449G>A, NM_001323296.2:c.810G>A, NM_001323296.1:c.810G>A, NR_147692.2:n.1816G>A, NR_147692.1:n.1930G>A

Select item 14823176618.

rs1482317661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44643808 (GRCh38)
3:44685300 (GRCh37)
Canonical SPDI:: NC_000003.12:44643807:A:G
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.44643808A>G, NC_000003.11:g.44685300A>G, NW_009646197.1:g.169162A>G, NM_006991.5:c.2678A>G, NM_006991.4:c.2678A>G, NM_006991.3:c.2678A>G, NM_001323295.2:c.2069A>G, NM_001323295.1:c.2069A>G, NR_147692.2:n.3045A>G, NR_147692.1:n.3159A>G, NM_001351733.2:c.2678A>G, NM_001351733.1:c.2678A>G, NM_001351732.2:c.2678A>G, NM_001351732.1:c.2678A>G, NM_001323293.2:c.2678A>G, NM_001323293.1:c.2678A>G, NM_001323296.2:c.2039A>G, NM_001323296.1:c.2039A>G, NP_008922.1:p.Gln893Arg, NP_001310224.1:p.Gln690Arg, NP_001338662.1:p.Gln893Arg, NP_001338661.1:p.Gln893Arg, NP_001310222.1:p.Gln893Arg, NP_001310225.1:p.Gln680Arg

Select item 14792904659.

rs1479290465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44643539 (GRCh38)
3:44685031 (GRCh37)
Canonical SPDI:: NC_000003.12:44643538:A:G
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.44643539A>G, NC_000003.11:g.44685031A>G, NW_009646197.1:g.168893A>G, NM_006991.5:c.2409A>G, NM_006991.4:c.2409A>G, NM_006991.3:c.2409A>G, NM_001323295.2:c.1800A>G, NM_001323295.1:c.1800A>G, NM_001351733.2:c.2409A>G, NM_001351733.1:c.2409A>G, NM_001351732.2:c.2409A>G, NM_001351732.1:c.2409A>G, NM_001323293.2:c.2409A>G, NM_001323293.1:c.2409A>G, NM_001323296.2:c.1770A>G, NM_001323296.1:c.1770A>G, NR_147692.2:n.2776A>G, NR_147692.1:n.2890A>G

Select item 147920341010.

rs1479203410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44642583 (GRCh38)
3:44684075 (GRCh37)
Canonical SPDI:: NC_000003.12:44642582:A:G
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000003.12:g.44642583A>G, NC_000003.11:g.44684075A>G, NW_009646197.1:g.167937A>G, NM_006991.5:c.1453A>G, NM_006991.4:c.1453A>G, NM_006991.3:c.1453A>G, NM_001323295.2:c.844A>G, NM_001323295.1:c.844A>G, NM_001351733.2:c.1453A>G, NM_001351733.1:c.1453A>G, NM_001351732.2:c.1453A>G, NM_001351732.1:c.1453A>G, NM_001323293.2:c.1453A>G, NM_001323293.1:c.1453A>G, NM_001323296.2:c.814A>G, NM_001323296.1:c.814A>G, NR_147692.2:n.1820A>G, NR_147692.1:n.1934A>G, NP_008922.1:p.Asn485Asp, NP_001310224.1:p.Asn282Asp, NP_001338662.1:p.Asn485Asp, NP_001338661.1:p.Asn485Asp, NP_001310222.1:p.Asn485Asp, NP_001310225.1:p.Asn272Asp

Select item 147886664811.

rs1478866648 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 3:44643623 (GRCh38)
3:44685115 (GRCh37)
Canonical SPDI:: NC_000003.12:44643622:AAA:AA
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.44643625del, NC_000003.11:g.44685117del, NW_009646197.1:g.168979del, NM_006991.5:c.2495del, NM_006991.4:c.2495del, NM_006991.3:c.2495del, NM_001323295.2:c.1886del, NM_001323295.1:c.1886del, NM_001351733.2:c.2495del, NM_001351733.1:c.2495del, NM_001351732.2:c.2495del, NM_001351732.1:c.2495del, NM_001323293.2:c.2495del, NM_001323293.1:c.2495del, NM_001323296.2:c.1856del, NM_001323296.1:c.1856del, NR_147692.2:n.2862del, NR_147692.1:n.2976del, NP_008922.1:p.Asn832fs, NP_001310224.1:p.Asn629fs, NP_001338662.1:p.Asn832fs, NP_001338661.1:p.Asn832fs, NP_001310222.1:p.Asn832fs, NP_001310225.1:p.Asn619fs

Select item 147784425212.

rs1477844252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:44643935 (GRCh38)
3:44685427 (GRCh37)
Canonical SPDI:: NC_000003.12:44643934:T:C
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.44643935T>C, NC_000003.11:g.44685427T>C, NW_009646197.1:g.169289T>C, NM_006991.5:c.2805T>C, NM_006991.4:c.2805T>C, NM_006991.3:c.2805T>C, NM_001323295.2:c.2196T>C, NM_001323295.1:c.2196T>C, NR_147692.2:n.3172T>C, NR_147692.1:n.3286T>C, NM_001351733.2:c.2805T>C, NM_001351733.1:c.2805T>C, NM_001351732.2:c.2805T>C, NM_001351732.1:c.2805T>C, NM_001323293.2:c.2805T>C, NM_001323293.1:c.2805T>C, NM_001323296.2:c.2166T>C, NM_001323296.1:c.2166T>C

Select item 147774119613.

rs1477741196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:44632528 (GRCh38)
3:44674020 (GRCh37)
Canonical SPDI:: NC_000003.12:44632527:G:T
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000003.12:g.44632528G>T, NC_000003.11:g.44674020G>T, NW_009646197.1:g.157882G>T, NM_006991.5:c.698G>T, NM_006991.4:c.698G>T, NM_006991.3:c.698G>T, NM_001024855.3:c.698G>T, NM_001024855.2:c.698G>T, NM_001024855.1:c.698G>T, NM_001323295.2:c.89G>T, NM_001323295.1:c.89G>T, NM_001351733.2:c.698G>T, NM_001351733.1:c.698G>T, NM_001351732.2:c.698G>T, NM_001351732.1:c.698G>T, NM_001323293.2:c.698G>T, NM_001323293.1:c.698G>T, NM_001323296.2:c.59G>T, NM_001323296.1:c.59G>T, NR_147691.2:n.1065G>T, NR_147691.1:n.1179G>T, NR_136582.2:n.1020G>T, NR_136582.1:n.1037G>T, NM_001351735.2:c.698G>T, NM_001351735.1:c.698G>T, NM_001351734.2:c.698G>T, NM_001351734.1:c.698G>T, NM_001323294.2:c.698G>T, NM_001323294.1:c.698G>T, NR_147692.2:n.1065G>T, NR_147692.1:n.1179G>T, NP_008922.1:p.Cys233Phe, NP_001020026.1:p.Cys233Phe, NP_001310224.1:p.Cys30Phe, NP_001338662.1:p.Cys233Phe, NP_001338661.1:p.Cys233Phe, NP_001310222.1:p.Cys233Phe, NP_001310225.1:p.Cys20Phe, NP_001338664.1:p.Cys233Phe, NP_001338663.1:p.Cys233Phe, NP_001310223.1:p.Cys233Phe

Select item 147658103314.

rs1476581033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:44642927 (GRCh38)
3:44684419 (GRCh37)
Canonical SPDI:: NC_000003.12:44642926:T:C
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.44642927T>C, NC_000003.11:g.44684419T>C, NW_009646197.1:g.168281T>C, NM_006991.5:c.1797T>C, NM_006991.4:c.1797T>C, NM_006991.3:c.1797T>C, NM_001323295.2:c.1188T>C, NM_001323295.1:c.1188T>C, NM_001351733.2:c.1797T>C, NM_001351733.1:c.1797T>C, NM_001351732.2:c.1797T>C, NM_001351732.1:c.1797T>C, NM_001323293.2:c.1797T>C, NM_001323293.1:c.1797T>C, NM_001323296.2:c.1158T>C, NM_001323296.1:c.1158T>C, NR_147692.2:n.2164T>C, NR_147692.1:n.2278T>C

Select item 147566405415.

rs1475664054 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:44644024 (GRCh38)
3:44685516 (GRCh37)
Canonical SPDI:: NC_000003.12:44644022:AAA:A
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.44644024_44644025del, NC_000003.11:g.44685516_44685517del, NW_009646197.1:g.169378_169379del, NM_006991.5:c.2894_2895del, NM_006991.4:c.2894_2895del, NM_006991.3:c.2894_2895del, NM_001323295.2:c.2285_2286del, NM_001323295.1:c.2285_2286del, NM_001351733.2:c.2894_2895del, NM_001351733.1:c.2894_2895del, NM_001351732.2:c.2894_2895del, NM_001351732.1:c.2894_2895del, NM_001323293.2:c.2894_2895del, NM_001323293.1:c.2894_2895del, NM_001323296.2:c.2255_2256del, NM_001323296.1:c.2255_2256del, NR_147692.2:n.3261_3262del, NR_147692.1:n.3375_3376del, NP_008922.1:p.Lys965fs, NP_001310224.1:p.Lys762fs, NP_001338662.1:p.Lys965fs, NP_001338661.1:p.Lys965fs, NP_001310222.1:p.Lys965fs, NP_001310225.1:p.Lys752fs

Select item 147446170016.

rs1474461700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:44643295 (GRCh38)
3:44684787 (GRCh37)
Canonical SPDI:: NC_000003.12:44643294:T:C
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.44643295T>C, NC_000003.11:g.44684787T>C, NW_009646197.1:g.168649T>C, NM_006991.5:c.2165T>C, NM_006991.4:c.2165T>C, NM_006991.3:c.2165T>C, NM_001323295.2:c.1556T>C, NM_001323295.1:c.1556T>C, NM_001351733.2:c.2165T>C, NM_001351733.1:c.2165T>C, NM_001351732.2:c.2165T>C, NM_001351732.1:c.2165T>C, NM_001323293.2:c.2165T>C, NM_001323293.1:c.2165T>C, NM_001323296.2:c.1526T>C, NM_001323296.1:c.1526T>C, NR_147692.2:n.2532T>C, NR_147692.1:n.2646T>C, NP_008922.1:p.Met722Thr, NP_001310224.1:p.Met519Thr, NP_001338662.1:p.Met722Thr, NP_001338661.1:p.Met722Thr, NP_001310222.1:p.Met722Thr, NP_001310225.1:p.Met509Thr

Select item 147346560217.

rs1473465602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44644078 (GRCh38)
3:44685570 (GRCh37)
Canonical SPDI:: NC_000003.12:44644077:A:G
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.44644078A>G, NC_000003.11:g.44685570A>G, NW_009646197.1:g.169432A>G, NM_006991.5:c.2948A>G, NM_006991.4:c.2948A>G, NM_006991.3:c.2948A>G, NM_001323295.2:c.2339A>G, NM_001323295.1:c.2339A>G, NM_001351733.2:c.2948A>G, NM_001351733.1:c.2948A>G, NM_001351732.2:c.2948A>G, NM_001351732.1:c.2948A>G, NM_001323293.2:c.2948A>G, NM_001323293.1:c.2948A>G, NM_001323296.2:c.2309A>G, NM_001323296.1:c.2309A>G, NR_147692.2:n.3315A>G, NR_147692.1:n.3429A>G, NP_008922.1:p.Glu983Gly, NP_001310224.1:p.Glu780Gly, NP_001338662.1:p.Glu983Gly, NP_001338661.1:p.Glu983Gly, NP_001310222.1:p.Glu983Gly, NP_001310225.1:p.Glu770Gly

Select item 147191527318.

rs1471915273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:44642421 (GRCh38)
3:44683913 (GRCh37)
Canonical SPDI:: NC_000003.12:44642420:T:C
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.44642421T>C, NC_000003.11:g.44683913T>C, NW_009646197.1:g.167775T>C, NM_006991.5:c.1291T>C, NM_006991.4:c.1291T>C, NM_006991.3:c.1291T>C, NM_001323295.2:c.682T>C, NM_001323295.1:c.682T>C, NR_147692.2:n.1658T>C, NR_147692.1:n.1772T>C, NM_001351733.2:c.1291T>C, NM_001351733.1:c.1291T>C, NM_001351732.2:c.1291T>C, NM_001351732.1:c.1291T>C, NM_001323293.2:c.1291T>C, NM_001323293.1:c.1291T>C, NM_001323296.2:c.652T>C, NM_001323296.1:c.652T>C, NP_008922.1:p.Cys431Arg, NP_001310224.1:p.Cys228Arg, NP_001338662.1:p.Cys431Arg, NP_001338661.1:p.Cys431Arg, NP_001310222.1:p.Cys431Arg, NP_001310225.1:p.Cys218Arg

Select item 147180332819.

rs1471803328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:44643987 (GRCh38)
3:44685479 (GRCh37)
Canonical SPDI:: NC_000003.12:44643986:A:G,NC_000003.12:44643986:A:T
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00003/1 (ALFA)
HGVS:: NC_000003.12:g.44643987A>G, NC_000003.12:g.44643987A>T, NC_000003.11:g.44685479A>G, NC_000003.11:g.44685479A>T, NW_009646197.1:g.169341A>G, NW_009646197.1:g.169341A>T, NM_006991.5:c.2857A>G, NM_006991.5:c.2857A>T, NM_006991.4:c.2857A>G, NM_006991.4:c.2857A>T, NM_006991.3:c.2857A>G, NM_006991.3:c.2857A>T, NM_001323295.2:c.2248A>G, NM_001323295.2:c.2248A>T, NM_001323295.1:c.2248A>G, NM_001323295.1:c.2248A>T, NM_001351733.2:c.2857A>G, NM_001351733.2:c.2857A>T, NM_001351733.1:c.2857A>G, NM_001351733.1:c.2857A>T, NM_001351732.2:c.2857A>G, NM_001351732.2:c.2857A>T, NM_001351732.1:c.2857A>G, NM_001351732.1:c.2857A>T, NM_001323293.2:c.2857A>G, NM_001323293.2:c.2857A>T, NM_001323293.1:c.2857A>G, NM_001323293.1:c.2857A>T, NM_001323296.2:c.2218A>G, NM_001323296.2:c.2218A>T, NM_001323296.1:c.2218A>G, NM_001323296.1:c.2218A>T, NR_147692.2:n.3224A>G, NR_147692.2:n.3224A>T, NR_147692.1:n.3338A>G, NR_147692.1:n.3338A>T, NP_008922.1:p.Thr953Ala, NP_008922.1:p.Thr953Ser, NP_001310224.1:p.Thr750Ala, NP_001310224.1:p.Thr750Ser, NP_001338662.1:p.Thr953Ala, NP_001338662.1:p.Thr953Ser, NP_001338661.1:p.Thr953Ala, NP_001338661.1:p.Thr953Ser, NP_001310222.1:p.Thr953Ala, NP_001310222.1:p.Thr953Ser, NP_001310225.1:p.Thr740Ala, NP_001310225.1:p.Thr740Ser

Select item 147149007120.

rs1471490071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44643217 (GRCh38)
3:44684709 (GRCh37)
Canonical SPDI:: NC_000003.12:44643216:A:G
Gene:: ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.44643217A>G, NC_000003.11:g.44684709A>G, NW_009646197.1:g.168571A>G, NM_006991.5:c.2087A>G, NM_006991.4:c.2087A>G, NM_006991.3:c.2087A>G, NM_001323295.2:c.1478A>G, NM_001323295.1:c.1478A>G, NR_147692.2:n.2454A>G, NR_147692.1:n.2568A>G, NM_001351733.2:c.2087A>G, NM_001351733.1:c.2087A>G, NM_001351732.2:c.2087A>G, NM_001351732.1:c.2087A>G, NM_001323293.2:c.2087A>G, NM_001323293.1:c.2087A>G, NM_001323296.2:c.1448A>G, NM_001323296.1:c.1448A>G, NP_008922.1:p.His696Arg, NP_001310224.1:p.His493Arg, NP_001338662.1:p.His696Arg, NP_001338661.1:p.His696Arg, NP_001310222.1:p.His696Arg, NP_001310225.1:p.His483Arg

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 755

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 755

Page of 38

Page of 38

Display Settings:

Supplemental Content

Find related data

Recent activity