SNP Links for Gene (Select 653240) - SNP

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Select item 14903306211.

rs1490330621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41120103 (GRCh38)
17:39276355 (GRCh37)
Canonical SPDI:: NC_000017.11:41120102:C:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.41120103C>A, NC_000017.10:g.39276355C>A, NW_025791801.1:g.69898C>A, NW_003871091.1:g.269854C>A

Select item 14903161372.

rs1490316137 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:41116931 (GRCh38)
17:39273184 (GRCh37)
Canonical SPDI:: NC_000017.11:41116931:A:AA
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41116932dup, NC_000017.10:g.39273184dup, NW_025791801.1:g.66727dup, NW_003871091.1:g.266682dup

Select item 14898575423.

rs1489857542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:41117939 (GRCh38)
17:39274191 (GRCh37)
Canonical SPDI:: NC_000017.11:41117938:T:A,NC_000017.11:41117938:T:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.41117939T>A, NC_000017.11:g.41117939T>G, NC_000017.10:g.39274191T>A, NC_000017.10:g.39274191T>G, NW_025791801.1:g.67734T>A, NW_025791801.1:g.67734T>G, NW_003871091.1:g.267689T>A, NW_003871091.1:g.267689T>G, NM_033059.4:c.377A>T, NM_033059.4:c.377A>C, NM_033059.3:c.377A>T, NM_033059.3:c.377A>C, NP_149048.2:p.Gln126Leu, NP_149048.2:p.Gln126Pro

Select item 14894425214.

rs1489442521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41117709 (GRCh38)
17:39273961 (GRCh37)
Canonical SPDI:: NC_000017.11:41117708:A:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41117709A>G, NC_000017.10:g.39273961A>G, NW_025791801.1:g.67504A>G, NW_003871091.1:g.267459A>G, NM_033059.4:c.*19T>C, NM_033059.3:c.*19T>C

Select item 14888790625.

rs1488879062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41117583 (GRCh38)
17:39273835 (GRCh37)
Canonical SPDI:: NC_000017.11:41117582:G:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41117583G>A, NC_000017.10:g.39273835G>A, NW_025791801.1:g.67378G>A, NW_003871091.1:g.267333G>A, NM_033059.4:c.*145C>T, NM_033059.3:c.*145C>T

Select item 14879722636.

rs1487972263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41117998 (GRCh38)
17:39274250 (GRCh37)
Canonical SPDI:: NC_000017.11:41117997:G:C
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.41117998G>C, NC_000017.10:g.39274250G>C, NW_025791801.1:g.67793G>C, NW_003871091.1:g.267748G>C, NM_033059.4:c.318C>G, NM_033059.3:c.318C>G, NP_149048.2:p.Ile106Met

Select item 14876832467.

rs1487683246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41117662 (GRCh38)
17:39273914 (GRCh37)
Canonical SPDI:: NC_000017.11:41117661:A:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.006667/4 (NorthernSweden)
HGVS:: NC_000017.11:g.41117662A>G, NC_000017.10:g.39273914A>G, NW_025791801.1:g.67457A>G, NW_003871091.1:g.267412A>G, NM_033059.4:c.*66T>C, NM_033059.3:c.*66T>C

Select item 14874503448.

rs1487450344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41117993 (GRCh38)
17:39274245 (GRCh37)
Canonical SPDI:: NC_000017.11:41117992:C:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000016/2 (GnomAD)
HGVS:: NC_000017.11:g.41117993C>G, NC_000017.10:g.39274245C>G, NW_025791801.1:g.67788C>G, NW_003871091.1:g.267743C>G, NM_033059.4:c.323G>C, NM_033059.3:c.323G>C, NP_149048.2:p.Ser108Thr

Select item 14874036399.

rs1487403639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41119051 (GRCh38)
17:39275303 (GRCh37)
Canonical SPDI:: NC_000017.11:41119050:T:C
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.41119051T>C, NC_000017.10:g.39275303T>C, NW_025791801.1:g.68846T>C, NW_003871091.1:g.268802T>C

Select item 148731541010.

rs1487315410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41118236 (GRCh38)
17:39274488 (GRCh37)
Canonical SPDI:: NC_000017.11:41118235:G:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41118236G>A, NC_000017.10:g.39274488G>A, NW_025791801.1:g.68031G>A, NW_003871091.1:g.267986G>A, NM_033059.4:c.80C>T, NM_033059.3:c.80C>T, NP_149048.2:p.Pro27Leu

Select item 148642044811.

rs1486420448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:41119341 (GRCh38)
17:39275593 (GRCh37)
Canonical SPDI:: NC_000017.11:41119340:T:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.41119341T>A, NC_000017.10:g.39275593T>A, NW_025791801.1:g.69136T>A, NW_003871091.1:g.269092T>A

Select item 148628435012.

rs1486284350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41118334 (GRCh38)
17:39274586 (GRCh37)
Canonical SPDI:: NC_000017.11:41118333:A:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41118334A>G, NC_000017.10:g.39274586A>G, NW_025791801.1:g.68129A>G, NW_003871091.1:g.268084A>G, NM_033059.4:c.-19T>C, NM_033059.3:c.-19T>C

Select item 148624062813.

rs1486240628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41116841 (GRCh38)
17:39273093 (GRCh37)
Canonical SPDI:: NC_000017.11:41116840:G:T
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000017.11:g.41116841G>T, NC_000017.10:g.39273093G>T, NW_025791801.1:g.66636G>T, NW_003871091.1:g.266591G>T

Select item 148492544414.

rs1484925444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41120075 (GRCh38)
17:39276327 (GRCh37)
Canonical SPDI:: NC_000017.11:41120074:G:C
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.41120075G>C, NC_000017.10:g.39276327G>C, NW_025791801.1:g.69870G>C, NW_003871091.1:g.269826G>C

Select item 148464230315.

rs1484642303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:41119301 (GRCh38)
17:39275553 (GRCh37)
Canonical SPDI:: NC_000017.11:41119300:C:A,NC_000017.11:41119300:C:T
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41119301C>A, NC_000017.11:g.41119301C>T, NC_000017.10:g.39275553C>A, NC_000017.10:g.39275553C>T, NW_025791801.1:g.69096C>A, NW_025791801.1:g.69096C>T, NW_003871091.1:g.269052C>A, NW_003871091.1:g.269052C>T

Select item 148158101516.

rs1481581015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41118899 (GRCh38)
17:39275151 (GRCh37)
Canonical SPDI:: NC_000017.11:41118898:A:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0./0 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.41118899A>G, NC_000017.10:g.39275151A>G, NW_025791801.1:g.68694A>G, NW_003871091.1:g.268649A>G

Select item 148149015917.

rs1481490159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41119653 (GRCh38)
17:39275905 (GRCh37)
Canonical SPDI:: NC_000017.11:41119652:G:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.41119653G>A, NC_000017.10:g.39275905G>A, NW_025791801.1:g.69448G>A, NW_003871091.1:g.269404G>A

Select item 147999215018.

rs1479992150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41118286 (GRCh38)
17:39274538 (GRCh37)
Canonical SPDI:: NC_000017.11:41118285:G:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41118286G>A, NC_000017.10:g.39274538G>A, NW_025791801.1:g.68081G>A, NW_003871091.1:g.268036G>A, NM_033059.4:c.30C>T, NM_033059.3:c.30C>T

Select item 147943193419.

rs1479431934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41117725 (GRCh38)
17:39273977 (GRCh37)
Canonical SPDI:: NC_000017.11:41117724:G:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41117725G>A, NC_000017.10:g.39273977G>A, NW_025791801.1:g.67520G>A, NW_003871091.1:g.267475G>A, NM_033059.4:c.*3C>T, NM_033059.3:c.*3C>T

Select item 147938021220.

rs1479380212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41117976 (GRCh38)
17:39274228 (GRCh37)
Canonical SPDI:: NC_000017.11:41117975:A:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.41117976A>G, NC_000017.10:g.39274228A>G, NW_025791801.1:g.67771A>G, NW_003871091.1:g.267726A>G, NM_033059.4:c.340T>C, NM_033059.3:c.340T>C, NP_149048.2:p.Cys114Arg