SNP Links for Gene (Select 3846) - SNP

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Links from Gene

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Select item 14908051271.

rs1490805127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:71549988 (GRCh38)
11:71261034 (GRCh37)
Canonical SPDI:: NC_000011.10:71549987:C:G,NC_000011.10:71549987:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.71549988C>G, NC_000011.10:g.71549988C>T, NC_000011.9:g.71261034C>G, NC_000011.9:g.71261034C>T

Select item 14907625712.

rs1490762571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:71549551 (GRCh38)
11:71260597 (GRCh37)
Canonical SPDI:: NC_000011.10:71549550:A:C
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.71549551A>C, NC_000011.9:g.71260597A>C, NM_005553.4:c.*384A>C, NM_005553.3:c.*384A>C

Select item 14902060723.

rs1490206072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71549050 (GRCh38)
11:71260096 (GRCh37)
Canonical SPDI:: NC_000011.10:71549049:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.71549050C>T, NC_000011.9:g.71260096C>T, NM_005553.4:c.393C>T, NM_005553.3:c.393C>T

Select item 14891645404.

rs1489164540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71549574 (GRCh38)
11:71260620 (GRCh37)
Canonical SPDI:: NC_000011.10:71549573:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: 3_prime_UTR_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_000011.10:g.71549574C>T, NC_000011.9:g.71260620C>T, NM_005553.4:c.*407C>T, NM_005553.3:c.*407C>T

Select item 14872490865.

rs1487249086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:71548551 (GRCh38)
11:71259597 (GRCh37)
Canonical SPDI:: NC_000011.10:71548550:G:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71548551G>T, NC_000011.9:g.71259597G>T, NM_005553.4:c.-107G>T, NM_005553.3:c.-107G>T

Select item 14866198956.

rs1486619895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71546551 (GRCh38)
11:71257597 (GRCh37)
Canonical SPDI:: NC_000011.10:71546550:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.71546551C>T, NC_000011.9:g.71257597C>T

Select item 14861056627.

rs1486105662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71547554 (GRCh38)
11:71258600 (GRCh37)
Canonical SPDI:: NC_000011.10:71547553:G:A
Gene:: KRTAP5-9 (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_000011.10:g.71547554G>A, NC_000011.9:g.71258600G>A

Select item 14857068588.

rs1485706858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71547637 (GRCh38)
11:71258683 (GRCh37)
Canonical SPDI:: NC_000011.10:71547636:C:T
Gene:: KRTAP5-9 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.71547637C>T, NC_000011.9:g.71258683C>T

Select item 14851898339.

rs1485189833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:71548601 (GRCh38)
11:71259647 (GRCh37)
Canonical SPDI:: NC_000011.10:71548600:C:A
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.71548601C>A, NC_000011.9:g.71259647C>A, NM_005553.4:c.-57C>A, NM_005553.3:c.-57C>A

Select item 148343647410.

rs1483436474 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGAA>- [Show Flanks]
Chromosome:: 11:71549763 (GRCh38)
11:71260809 (GRCh37)
Canonical SPDI:: NC_000011.10:71549761:AATGAA:A
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71549763_71549767del, NC_000011.9:g.71260809_71260813del

Select item 148331602611.

rs1483316026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71546652 (GRCh38)
11:71257698 (GRCh37)
Canonical SPDI:: NC_000011.10:71546651:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.71546652C>T, NC_000011.9:g.71257698C>T

Select item 148286296412.

rs1482862964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71549293 (GRCh38)
11:71260339 (GRCh37)
Canonical SPDI:: NC_000011.10:71549292:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000011.10:g.71549293C>T, NC_000011.9:g.71260339C>T, NM_005553.4:c.*126C>T, NM_005553.3:c.*126C>T

Select item 148122186713.

rs1481221867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71547247 (GRCh38)
11:71258293 (GRCh37)
Canonical SPDI:: NC_000011.10:71547246:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.71547247C>T, NC_000011.9:g.71258293C>T

Select item 148056598014.

rs1480565980 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAT [Show Flanks]
Chromosome:: 11:71546428 (GRCh38)
11:71257475 (GRCh37)
Canonical SPDI:: NC_000011.10:71546428:GAT:GATGAT
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GATGAT=0.000084/1 (ALFA)
GAT=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71546429_71546431dup, NC_000011.9:g.71257475_71257477dup

Select item 148051958815.

rs1480519588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71549040 (GRCh38)
11:71260086 (GRCh37)
Canonical SPDI:: NC_000011.10:71549039:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.71549040C>T, NC_000011.9:g.71260086C>T, NM_005553.4:c.383C>T, NM_005553.3:c.383C>T, NP_005544.4:p.Ser128Phe

Select item 148003922616.

rs1480039226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71549405 (GRCh38)
11:71260451 (GRCh37)
Canonical SPDI:: NC_000011.10:71549404:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.71549405C>T, NC_000011.9:g.71260451C>T, NM_005553.4:c.*238C>T, NM_005553.3:c.*238C>T

Select item 147972466017.

rs1479724660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71549056 (GRCh38)
11:71260102 (GRCh37)
Canonical SPDI:: NC_000011.10:71549055:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.71549056C>T, NC_000011.9:g.71260102C>T, NM_005553.4:c.399C>T, NM_005553.3:c.399C>T

Select item 147900766118.

rs1479007661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71548630 (GRCh38)
11:71259676 (GRCh37)
Canonical SPDI:: NC_000011.10:71548629:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.71548630C>T, NC_000011.9:g.71259676C>T, NM_005553.4:c.-28C>T, NM_005553.3:c.-28C>T

Select item 147885029919.

rs1478850299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:71549134 (GRCh38)
11:71260180 (GRCh37)
Canonical SPDI:: NC_000011.10:71549133:C:A
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.71549134C>A, NC_000011.9:g.71260180C>A, NM_005553.4:c.477C>A, NM_005553.3:c.477C>A, NP_005544.4:p.Cys159Ter

Select item 147872776420.

rs1478727764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71549745 (GRCh38)
11:71260791 (GRCh37)
Canonical SPDI:: NC_000011.10:71549744:C:T
Gene:: KRTAP5-9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71549745C>T, NC_000011.9:g.71260791C>T

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