SNP Links for Gene (Select 3851) - SNP

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Select item 14904196121.

rs1490419612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52809720 (GRCh38)
12:53203504 (GRCh37)
Canonical SPDI:: NC_000012.12:52809719:A:G
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52809720A>G, NC_000012.11:g.53203504A>G, NG_007380.1:g.9832T>C

Select item 14903530582.

rs1490353058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52808700 (GRCh38)
12:53202484 (GRCh37)
Canonical SPDI:: NC_000012.12:52808699:G:A
Gene:: KRT4 (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 (TOPMED)
HGVS:: NC_000012.12:g.52808700G>A, NC_000012.11:g.53202484G>A, NG_007380.1:g.10852C>T, NM_002272.4:c.985C>T, NM_002272.3:c.985C>T

Select item 14902333493.

rs1490233349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52809775 (GRCh38)
12:53203559 (GRCh37)
Canonical SPDI:: NC_000012.12:52809774:A:G
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52809775A>G, NC_000012.11:g.53203559A>G, NG_007380.1:g.9777T>C

Select item 14901010824.

rs1490101082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:52807890 (GRCh38)
12:53201674 (GRCh37)
Canonical SPDI:: NC_000012.12:52807889:G:T
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52807890G>T, NC_000012.11:g.53201674G>T, NG_007380.1:g.11662C>A

Select item 14899364555.

rs1489936455 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 12:52811772 (GRCh38)
12:53205556 (GRCh37)
Canonical SPDI:: NC_000012.12:52811770:GAAG:G
Gene:: KRT4 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52811772_52811774del, NC_000012.11:g.53205556_53205558del, NG_007380.1:g.7779_7781del, NM_002272.4:c.667_669del, NM_002272.3:c.667_669del, NP_002263.3:p.Phe223del

Select item 14899282206.

rs1489928220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52809286 (GRCh38)
12:53203070 (GRCh37)
Canonical SPDI:: NC_000012.12:52809285:G:A
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52809286G>A, NC_000012.11:g.53203070G>A, NG_007380.1:g.10266C>T

Select item 14898975817.

rs1489897581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52808320 (GRCh38)
12:53202104 (GRCh37)
Canonical SPDI:: NC_000012.12:52808319:C:T
Gene:: KRT4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52808320C>T, NC_000012.11:g.53202104C>T, NG_007380.1:g.11232G>A, NM_002272.4:c.1099G>A, NM_002272.3:c.1099G>A, NP_002263.3:p.Ala367Thr

Select item 14898619448.

rs1489861944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52808213 (GRCh38)
12:53201997 (GRCh37)
Canonical SPDI:: NC_000012.12:52808212:G:A
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.52808213G>A, NC_000012.11:g.53201997G>A, NG_007380.1:g.11339C>T

Select item 14897680339.

rs1489768033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:52812071 (GRCh38)
12:53205855 (GRCh37)
Canonical SPDI:: NC_000012.12:52812070:C:A,NC_000012.12:52812070:C:G
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.52812071C>A, NC_000012.12:g.52812071C>G, NC_000012.11:g.53205855C>A, NC_000012.11:g.53205855C>G, NG_007380.1:g.7481G>T, NG_007380.1:g.7481G>C

Select item 148968733710.

rs1489687337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52807745 (GRCh38)
12:53201529 (GRCh37)
Canonical SPDI:: NC_000012.12:52807744:C:T
Gene:: KRT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52807745C>T, NC_000012.11:g.53201529C>T, NG_007380.1:g.11807G>A, NM_002272.4:c.1245G>A, NM_002272.3:c.1245G>A

Select item 148959491611.

rs1489594916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:52815750 (GRCh38)
12:53209534 (GRCh37)
Canonical SPDI:: NC_000012.12:52815749:A:C
Gene:: KRT4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.52815750A>C, NC_000012.11:g.53209534A>C, NG_007380.1:g.3802T>G

Select item 148869121212.

rs1488691212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52806366 (GRCh38)
12:53200150 (GRCh37)
Canonical SPDI:: NC_000012.12:52806365:T:C
Gene:: KRT4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52806366T>C, NC_000012.11:g.53200150T>C, NG_007380.1:g.13186A>G

Select item 148848757613.

rs1488487576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:52814218 (GRCh38)
12:53208002 (GRCh37)
Canonical SPDI:: NC_000012.12:52814217:T:A,NC_000012.12:52814217:T:C
Gene:: KRT4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52814218T>A, NC_000012.12:g.52814218T>C, NC_000012.11:g.53208002T>A, NC_000012.11:g.53208002T>C, NG_007380.1:g.5334A>T, NG_007380.1:g.5334A>G

Select item 148788671414.

rs1487886714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:52813223 (GRCh38)
12:53207007 (GRCh37)
Canonical SPDI:: NC_000012.12:52813222:G:T
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.0022/4 (Korea1K)
HGVS:: NC_000012.12:g.52813223G>T, NC_000012.11:g.53207007G>T, NG_007380.1:g.6329C>A

Select item 148780961115.

rs1487809611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:52811168 (GRCh38)
12:53204952 (GRCh37)
Canonical SPDI:: NC_000012.12:52811167:T:A
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000071/10 (GnomAD)
A=0.000106/28 (TOPMED)
HGVS:: NC_000012.12:g.52811168T>A, NC_000012.11:g.53204952T>A, NG_007380.1:g.8384A>T

Select item 148767449616.

rs1487674496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52808952 (GRCh38)
12:53202736 (GRCh37)
Canonical SPDI:: NC_000012.12:52808951:G:A
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.52808952G>A, NC_000012.11:g.53202736G>A, NG_007380.1:g.10600C>T

Select item 148750449617.

rs1487504496 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TAAGCACTGCACCTGTGTTGATA
Chromosome:: no mapping
Canonical SPDI:

Select item 148703031418.

rs1487030314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52806944 (GRCh38)
12:53200728 (GRCh37)
Canonical SPDI:: NC_000012.12:52806943:G:A
Gene:: KRT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52806944G>A, NC_000012.11:g.53200728G>A, NG_007380.1:g.12608C>T, NM_002272.4:c.*125C>T, NM_002272.3:c.*125C>T

Select item 148648857719.

rs1486488577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52813929 (GRCh38)
12:53207713 (GRCh37)
Canonical SPDI:: NC_000012.12:52813928:A:G
Gene:: KRT4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000027/3 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.52813929A>G, NC_000012.11:g.53207713A>G, NG_007380.1:g.5623T>C, NM_002272.4:c.130T>C, NM_002272.3:c.130T>C, NP_002263.3:p.Ser44Pro

Select item 148502637720.

rs1485026377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52812834 (GRCh38)
12:53206618 (GRCh37)
Canonical SPDI:: NC_000012.12:52812833:C:T
Gene:: KRT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52812834C>T, NC_000012.11:g.53206618C>T, NG_007380.1:g.6718G>A

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