SNP Links for Nucleotide (Select 1227523155) - SNP

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Links from Nucleotide

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Select item 14904765471.

rs1490476547 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30425703 (GRCh38)
21:31798021 (GRCh37)
Canonical SPDI:: NC_000021.9:30425702:A:G
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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_000021.9:g.30425703A>G, NC_000021.8:g.31798021A>G, NM_181622.2:c.210T>C, NM_181622.1:c.210T>C

Select item 14828290332.

rs1482829033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30425807 (GRCh38)
21:31798125 (GRCh37)
Canonical SPDI:: NC_000021.9:30425806:A:G
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30425807A>G, NC_000021.8:g.31798125A>G, NM_181622.2:c.106T>C, NM_181622.1:c.106T>C, NP_853653.1:p.Tyr36His

Select item 14821342803.

rs1482134280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30425443 (GRCh38)
21:31797761 (GRCh37)
Canonical SPDI:: NC_000021.9:30425442:C:A
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000032/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30425443C>A, NC_000021.8:g.31797761C>A, NM_181622.2:c.470G>T, NM_181622.1:c.470G>T, NP_853653.1:p.Trp157Leu

Select item 14816174354.

rs1481617435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30425518 (GRCh38)
21:31797836 (GRCh37)
Canonical SPDI:: NC_000021.9:30425517:T:C
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000051/1 (ALFA)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30425518T>C, NC_000021.8:g.31797836T>C, NM_181622.2:c.395A>G, NM_181622.1:c.395A>G, NP_853653.1:p.Tyr132Cys

Select item 14807462555.

rs1480746255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30425749 (GRCh38)
21:31798067 (GRCh37)
Canonical SPDI:: NC_000021.9:30425748:C:T
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/2 (ALFA)
HGVS:: NC_000021.9:g.30425749C>T, NC_000021.8:g.31798067C>T, NM_181622.2:c.164G>A, NM_181622.1:c.164G>A, NP_853653.1:p.Gly55Asp

Select item 14801182606.

rs1480118260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30425926 (GRCh38)
21:31798244 (GRCh37)
Canonical SPDI:: NC_000021.9:30425925:T:C
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,intron_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_000021.9:g.30425926T>C, NC_000021.8:g.31798244T>C, NM_181622.2:c.-14A>G

Select item 14795515257.

rs1479551525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30425663 (GRCh38)
21:31797981 (GRCh37)
Canonical SPDI:: NC_000021.9:30425662:T:C
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000021.9:g.30425663T>C, NC_000021.8:g.31797981T>C, NM_181622.2:c.250A>G, NM_181622.1:c.250A>G, NP_853653.1:p.Arg84Gly

Select item 14728177798.

rs1472817779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:30425685 (GRCh38)
21:31798003 (GRCh37)
Canonical SPDI:: NC_000021.9:30425684:G:T
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30425685G>T, NC_000021.8:g.31798003G>T, NM_181622.2:c.228C>A, NM_181622.1:c.228C>A, NP_853653.1:p.Cys76Ter

Select item 14716185619.

rs1471618561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:30425389 (GRCh38)
21:31797707 (GRCh37)
Canonical SPDI:: NC_000021.9:30425388:A:G,NC_000021.9:30425388:A:T
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.30425389A>G, NC_000021.9:g.30425389A>T, NC_000021.8:g.31797707A>G, NC_000021.8:g.31797707A>T, NM_181622.2:c.*5T>C, NM_181622.2:c.*5T>A

Select item 147138662410.

rs1471386624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:30425405 (GRCh38)
21:31797723 (GRCh37)
Canonical SPDI:: NC_000021.9:30425404:C:A,NC_000021.9:30425404:C:T
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000102/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30425405C>A, NC_000021.9:g.30425405C>T, NC_000021.8:g.31797723C>A, NC_000021.8:g.31797723C>T, NM_181622.2:c.508G>T, NM_181622.2:c.508G>A, NM_181622.1:c.508G>T, NM_181622.1:c.508G>A, NP_853653.1:p.Gly170Cys, NP_853653.1:p.Gly170Ser

Select item 147110595311.

rs1471105953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:30425393 (GRCh38)
21:31797711 (GRCh37)
Canonical SPDI:: NC_000021.9:30425392:G:T
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30425393G>T, NC_000021.8:g.31797711G>T, NM_181622.2:c.*1C>A, NM_181622.1:c.*1C>A

Select item 146948015312.

rs1469480153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30425891 (GRCh38)
21:31798209 (GRCh37)
Canonical SPDI:: NC_000021.9:30425890:T:C
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30425891T>C, NC_000021.8:g.31798209T>C, NM_181622.2:c.22A>G, NM_181622.1:c.22A>G, NP_853653.1:p.Arg8Gly

Select item 146468440813.

rs1464684408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30425590 (GRCh38)
21:31797908 (GRCh37)
Canonical SPDI:: NC_000021.9:30425589:C:T
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30425590C>T, NC_000021.8:g.31797908C>T, NM_181622.2:c.323G>A, NM_181622.1:c.323G>A, NP_853653.1:p.Cys108Tyr

Select item 146406358114.

rs1464063581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30425536 (GRCh38)
21:31797854 (GRCh37)
Canonical SPDI:: NC_000021.9:30425535:C:T
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000021.9:g.30425536C>T, NC_000021.8:g.31797854C>T, NM_181622.2:c.377G>A, NM_181622.1:c.377G>A, NP_853653.1:p.Gly126Asp

Select item 146196313615.

rs1461963136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30425908 (GRCh38)
21:31798226 (GRCh37)
Canonical SPDI:: NC_000021.9:30425907:G:A
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30425908G>A, NC_000021.8:g.31798226G>A, NM_181622.2:c.5C>T, NM_181622.1:c.5C>T, NP_853653.1:p.Ser2Phe

Select item 145734010816.

rs1457340108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30425702 (GRCh38)
21:31798020 (GRCh37)
Canonical SPDI:: NC_000021.9:30425701:C:A
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30425702C>A, NC_000021.8:g.31798020C>A, NM_181622.2:c.211G>T, NM_181622.1:c.211G>T, NP_853653.1:p.Val71Phe

Select item 145593998017.

rs1455939980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:30425895 (GRCh38)
21:31798213 (GRCh37)
Canonical SPDI:: NC_000021.9:30425894:G:C
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.30425895G>C, NC_000021.8:g.31798213G>C, NM_181622.2:c.18C>G, NM_181622.1:c.18C>G, NP_853653.1:p.Cys6Trp

Select item 145474564818.

rs1454745648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:30425467 (GRCh38)
21:31797785 (GRCh37)
Canonical SPDI:: NC_000021.9:30425466:G:C
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30425467G>C, NC_000021.8:g.31797785G>C, NM_181622.2:c.446C>G, NM_181622.1:c.446C>G, NP_853653.1:p.Pro149Arg

Select item 144865020219.

rs1448650202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 21:30425920 (GRCh38)
21:31798238 (GRCh37)
Canonical SPDI:: NC_000021.9:30425919:G:A,NC_000021.9:30425919:G:C,NC_000021.9:30425919:G:T
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000142/2 (TOMMO)
HGVS:: NC_000021.9:g.30425920G>A, NC_000021.9:g.30425920G>C, NC_000021.9:g.30425920G>T, NC_000021.8:g.31798238G>A, NC_000021.8:g.31798238G>C, NC_000021.8:g.31798238G>T, NM_181622.2:c.-8C>T, NM_181622.2:c.-8C>G, NM_181622.2:c.-8C>A

Select item 143284234520.

rs1432842345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:30425490 (GRCh38)
21:31797808 (GRCh37)
Canonical SPDI:: NC_000021.9:30425489:A:C
Gene:: KRTAP13-3 (Varview), LOC105372772 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000021.9:g.30425490A>C, NC_000021.8:g.31797808A>C, NM_181622.2:c.423T>G, NM_181622.1:c.423T>G, NP_853653.1:p.Ser141Arg