SNP Links for Gene (Select 83896) - SNP

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Select item 14899921171.

rs1489992117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41009405 (GRCh38)
17:39165657 (GRCh37)
Canonical SPDI:: NC_000017.11:41009404:C:A
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.41009405C>A, NC_000017.10:g.39165657C>A, NW_003871091.1:g.158800C>A

Select item 14887445342.

rs1488744534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:41010473 (GRCh38)
17:39166725 (GRCh37)
Canonical SPDI:: NC_000017.11:41010472:A:C
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.41010473A>C, NC_000017.10:g.39166725A>C, NW_003871091.1:g.159868A>C

Select item 14876904033.

rs1487690403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:41008961 (GRCh38)
17:39165213 (GRCh37)
Canonical SPDI:: NC_000017.11:41008960:A:C,NC_000017.11:41008960:A:T
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.41008961A>C, NC_000017.11:g.41008961A>T, NC_000017.10:g.39165213A>C, NC_000017.10:g.39165213A>T, NW_003871091.1:g.158356A>C, NW_003871091.1:g.158356A>T, NM_031958.2:c.114T>G, NM_031958.2:c.114T>A, NM_031958.1:c.114T>G, NM_031958.1:c.114T>A, NP_114164.1:p.His38Gln, NP_114164.1:p.His38Gln

Select item 14867553234.

rs1486755323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41009303 (GRCh38)
17:39165555 (GRCh37)
Canonical SPDI:: NC_000017.11:41009302:T:C
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41009303T>C, NC_000017.10:g.39165555T>C, NW_003871091.1:g.158698T>C

Select item 14867194685.

rs1486719468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41008759 (GRCh38)
17:39165011 (GRCh37)
Canonical SPDI:: NC_000017.11:41008758:C:A
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41008759C>A, NC_000017.10:g.39165011C>A, NW_003871091.1:g.158154C>A, NM_031958.2:c.*19G>T, NM_031958.1:c.*19G>T

Select item 14862287386.

rs1486228738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41010725 (GRCh38)
17:39166977 (GRCh37)
Canonical SPDI:: NC_000017.11:41010724:A:G
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.41010725A>G, NC_000017.10:g.39166977A>G, NW_003871091.1:g.160120A>G

Select item 14861247307.

rs1486124730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:41009730 (GRCh38)
17:39165982 (GRCh37)
Canonical SPDI:: NC_000017.11:41009729:A:T
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41009730A>T, NC_000017.10:g.39165982A>T, NW_003871091.1:g.159125A>T

Select item 14852437198.

rs1485243719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41010158 (GRCh38)
17:39166410 (GRCh37)
Canonical SPDI:: NC_000017.11:41010157:G:T
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.41010158G>T, NC_000017.10:g.39166410G>T, NW_003871091.1:g.159553G>T

Select item 14846526349.

rs1484652634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:41008296 (GRCh38)
17:39164548 (GRCh37)
Canonical SPDI:: NC_000017.11:41008295:T:G
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.41008296T>G, NC_000017.10:g.39164548T>G, NW_003871091.1:g.157691T>G

Select item 148304884710.

rs1483048847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41009662 (GRCh38)
17:39165914 (GRCh37)
Canonical SPDI:: NC_000017.11:41009661:G:C
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41009662G>C, NC_000017.10:g.39165914G>C, NW_003871091.1:g.159057G>C

Select item 148288226611.

rs1482882266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41008834 (GRCh38)
17:39165086 (GRCh37)
Canonical SPDI:: NC_000017.11:41008833:T:C
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.41008834T>C, NC_000017.10:g.39165086T>C, NW_003871091.1:g.158229T>C, NM_031958.2:c.241A>G, NM_031958.1:c.241A>G, NP_114164.1:p.Asn81Asp

Select item 148269569912.

rs1482695699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41009151 (GRCh38)
17:39165403 (GRCh37)
Canonical SPDI:: NC_000017.11:41009150:C:T
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.41009151C>T, NC_000017.10:g.39165403C>T, NW_003871091.1:g.158546C>T

Select item 147855917813.

rs1478559178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41008529 (GRCh38)
17:39164781 (GRCh37)
Canonical SPDI:: NC_000017.11:41008528:G:C
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41008529G>C, NC_000017.10:g.39164781G>C, NW_003871091.1:g.157924G>C, NM_031958.2:c.*249C>G, NM_031958.1:c.*249C>G

Select item 147729594114.

rs1477295941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:41009959 (GRCh38)
17:39166211 (GRCh37)
Canonical SPDI:: NC_000017.11:41009958:T:G
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41009959T>G, NC_000017.10:g.39166211T>G, NW_003871091.1:g.159354T>G

Select item 147531899815.

rs1475318998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41010975 (GRCh38)
17:39167227 (GRCh37)
Canonical SPDI:: NC_000017.11:41010974:T:C
Gene:: KRTAP3-1 (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=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.41010975T>C, NC_000017.10:g.39167227T>C, NW_003871091.1:g.160370T>C

Select item 147528801716.

rs1475288017 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 17:41009864 (GRCh38)
17:39166116 (GRCh37)
Canonical SPDI:: NC_000017.11:41009861:AGAAG:AG
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.41009864_41009866del, NC_000017.10:g.39166116_39166118del, NW_003871091.1:g.159259_159261del

Select item 147364272717.

rs1473642727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41010831 (GRCh38)
17:39167083 (GRCh37)
Canonical SPDI:: NC_000017.11:41010830:C:G
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41010831C>G, NC_000017.10:g.39167083C>G, NW_003871091.1:g.160226C>G

Select item 147146782018.

rs1471467820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41008417 (GRCh38)
17:39164669 (GRCh37)
Canonical SPDI:: NC_000017.11:41008416:G:A
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41008417G>A, NC_000017.10:g.39164669G>A, NW_003871091.1:g.157812G>A

Select item 146941090819.

rs1469410908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41009978 (GRCh38)
17:39166230 (GRCh37)
Canonical SPDI:: NC_000017.11:41009977:C:T
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41009978C>T, NC_000017.10:g.39166230C>T, NW_003871091.1:g.159373C>T

Select item 146874952620.

rs1468749526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41010820 (GRCh38)
17:39167072 (GRCh37)
Canonical SPDI:: NC_000017.11:41010819:C:T
Gene:: KRTAP3-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.41010820C>T, NC_000017.10:g.39167072C>T, NW_003871091.1:g.160215C>T

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