SNP Links for Gene (Select 85293) - SNP

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Select item 14914345561.

rs1491434556 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTTT [Show Flanks]
Chromosome:: 17:40995524 (GRCh38)
17:39151777 (GRCh37)
Canonical SPDI:: NC_000017.11:40995524:TTTTTTT:TTTTTTTCTTTTTTT
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTCTTTTTTT=0./0 (ALFA)
TTTTTTTC=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40995525_40995531T[7]CTTTTTTT[1], NC_000017.10:g.39151777_39151783T[7]CTTTTTTT[1], NW_003871091.1:g.144920_144926T[7]CTTTTTTT[1]

Select item 14902455262.

rs1490245526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:40995086 (GRCh38)
17:39151338 (GRCh37)
Canonical SPDI:: NC_000017.11:40995085:T:A
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.40995086T>A, NC_000017.10:g.39151338T>A, NW_003871091.1:g.144481T>A

Select item 14870231853.

rs1487023185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:40994635 (GRCh38)
17:39150887 (GRCh37)
Canonical SPDI:: NC_000017.11:40994634:T:C,NC_000017.11:40994634:T:G
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40994635T>C, NC_000017.11:g.40994635T>G, NC_000017.10:g.39150887T>C, NC_000017.10:g.39150887T>G, NW_003871091.1:g.144030T>C, NW_003871091.1:g.144030T>G

Select item 14867182544.

rs1486718254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:40995473 (GRCh38)
17:39151725 (GRCh37)
Canonical SPDI:: NC_000017.11:40995472:C:A
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40995473C>A, NC_000017.10:g.39151725C>A, NW_003871091.1:g.144868C>A

Select item 14857072045.

rs1485707204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40995875 (GRCh38)
17:39152127 (GRCh37)
Canonical SPDI:: NC_000017.11:40995874:G:A
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.40995875G>A, NC_000017.10:g.39152127G>A, NW_003871091.1:g.145270G>A

Select item 14850544326.

rs1485054432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40995361 (GRCh38)
17:39151613 (GRCh37)
Canonical SPDI:: NC_000017.11:40995360:G:A
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40995361G>A, NC_000017.10:g.39151613G>A, NW_003871091.1:g.144756G>A

Select item 14843516007.

rs1484351600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:40993230 (GRCh38)
17:39149482 (GRCh37)
Canonical SPDI:: NC_000017.11:40993229:C:G,NC_000017.11:40993229:C:T
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.40993230C>G, NC_000017.11:g.40993230C>T, NC_000017.10:g.39149482C>G, NC_000017.10:g.39149482C>T, NW_003871091.1:g.142625C>G, NW_003871091.1:g.142625C>T

Select item 14832852518.

rs1483285251 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:40993550 (GRCh38)
17:39149802 (GRCh37)
Canonical SPDI:: NC_000017.11:40993549:TTT:TT
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000214/3 (ALFA)
-=0.000057/8 (GnomAD)
-=0.000128/34 (TOPMED)
HGVS:: NC_000017.11:g.40993552del, NC_000017.10:g.39149804del, NW_003871091.1:g.142947del, NM_033185.3:c.*251del, NM_033185.2:c.*251del

Select item 14832372619.

rs1483237261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:40994506 (GRCh38)
17:39150758 (GRCh37)
Canonical SPDI:: NC_000017.11:40994505:T:G
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40994506T>G, NC_000017.10:g.39150758T>G, NW_003871091.1:g.143901T>G

Select item 148127160810.

rs1481271608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40995293 (GRCh38)
17:39151545 (GRCh37)
Canonical SPDI:: NC_000017.11:40995292:A:G
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40995293A>G, NC_000017.10:g.39151545A>G, NW_003871091.1:g.144688A>G

Select item 148109831611.

rs1481098316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:40995718 (GRCh38)
17:39151970 (GRCh37)
Canonical SPDI:: NC_000017.11:40995717:C:A
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40995718C>A, NC_000017.10:g.39151970C>A, NW_003871091.1:g.145113C>A

Select item 148011606812.

rs1480116068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40994938 (GRCh38)
17:39151190 (GRCh37)
Canonical SPDI:: NC_000017.11:40994937:A:G
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.40994938A>G, NC_000017.10:g.39151190A>G, NW_003871091.1:g.144333A>G

Select item 148011510813.

rs1480115108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:40993457 (GRCh38)
17:39149709 (GRCh37)
Canonical SPDI:: NC_000017.11:40993456:A:T
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 3_prime_UTR_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.40993457A>T, NC_000017.10:g.39149709A>T, NW_003871091.1:g.142852A>T, NM_033185.3:c.*344T>A, NM_033185.2:c.*344T>A

Select item 148007565414.

rs1480075654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:40994104 (GRCh38)
17:39150356 (GRCh37)
Canonical SPDI:: NC_000017.11:40994103:T:C,NC_000017.11:40994103:T:G
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.40994104T>C, NC_000017.11:g.40994104T>G, NC_000017.10:g.39150356T>C, NC_000017.10:g.39150356T>G, NW_003871091.1:g.143499T>C, NW_003871091.1:g.143499T>G, NM_033185.3:c.-7A>G, NM_033185.3:c.-7A>C, NM_033185.2:c.-7A>G, NM_033185.2:c.-7A>C

Select item 147998553415.

rs1479985534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:40994340 (GRCh38)
17:39150592 (GRCh37)
Canonical SPDI:: NC_000017.11:40994339:G:T
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40994340G>T, NC_000017.10:g.39150592G>T, NW_003871091.1:g.143735G>T

Select item 147715804616.

rs1477158046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40994683 (GRCh38)
17:39150935 (GRCh37)
Canonical SPDI:: NC_000017.11:40994682:T:C
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.40994683T>C, NC_000017.10:g.39150935T>C, NW_003871091.1:g.144078T>C

Select item 147655351817.

rs1476553518 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 17:40995515 (GRCh38)
17:39151768 (GRCh37)
Canonical SPDI:: NC_000017.11:40995515::CC
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
CC=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40995515_40995516insCC, NC_000017.10:g.39151767_39151768insCC, NW_003871091.1:g.144910_144911insCC

Select item 147625347118.

rs1476253471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:40993999 (GRCh38)
17:39150251 (GRCh37)
Canonical SPDI:: NC_000017.11:40993998:G:T
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.40993999G>T, NC_000017.10:g.39150251G>T, NW_003871091.1:g.143394G>T, NM_033185.3:c.99C>A, NM_033185.2:c.99C>A

Select item 147580197919.

rs1475801979 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:40993374 (GRCh38)
17:39149626 (GRCh37)
Canonical SPDI:: NC_000017.11:40993371:AGAG:AG
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000017.11:g.40993372AG[1], NC_000017.10:g.39149624AG[1], NW_003871091.1:g.142767AG[1]

Select item 147557649720.

rs1475576497 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:40995908 (GRCh38)
17:39152160 (GRCh37)
Canonical SPDI:: NC_000017.11:40995907:T:
Gene:: KRTAP3-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.40995908del, NC_000017.10:g.39152160del, NW_003871091.1:g.145303del

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