SNP Links for Gene (Select 440021) - SNP

Links from Gene

Items: 1 to 20 of 951

<< First< Prev

Page of 48

Next >Last >>

Select item 14907520621.

rs1490752062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1596695 (GRCh38)
11:1617925 (GRCh37)
Canonical SPDI:: NC_000011.10:1596694:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.1596695C>T, NC_000011.9:g.1617925C>T, NW_025791792.1:g.336671C>T, NT_187657.1:g.73238C>T, NT_187584.1:g.78932C>T

Select item 14901756672.

rs1490175667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1598225 (GRCh38)
11:1619455 (GRCh37)
Canonical SPDI:: NC_000011.10:1598224:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.1598225C>T, NC_000011.9:g.1619455C>T, NW_025791792.1:g.338201C>T, NT_187657.1:g.74768C>T, NT_187584.1:g.80462C>T, NR_021489.2:n.1306C>T, NR_021489.1:n.1307C>T, NM_001004325.2:c.26G>A, NM_001004325.1:c.26G>A, NP_001004325.1:p.Gly9Asp

Select item 14901499093.

rs1490149909 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:1598478 (GRCh38)
11:1619708 (GRCh37)
Canonical SPDI:: NC_000011.10:1598477:A:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1598478A>T, NC_000011.9:g.1619708A>T, NW_025791792.1:g.338454A>T, NT_187657.1:g.75021A>T, NT_187584.1:g.80715A>T, NR_021489.2:n.1559A>T, NR_021489.1:n.1560A>T

Select item 14894330034.

rs1489433003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1598356 (GRCh38)
11:1619586 (GRCh37)
Canonical SPDI:: NC_000011.10:1598355:G:A
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1598356G>A, NC_000011.9:g.1619586G>A, NW_025791792.1:g.338332G>A, NT_187657.1:g.74899G>A, NT_187584.1:g.80593G>A, NR_021489.2:n.1437G>A, NR_021489.1:n.1438G>A

Select item 14888674125.

rs1488867412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1597135 (GRCh38)
11:1618365 (GRCh37)
Canonical SPDI:: NC_000011.10:1597134:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000011.10:g.1597135C>T, NC_000011.9:g.1618365C>T, NW_025791792.1:g.337111C>T, NT_187657.1:g.73678C>T, NT_187584.1:g.79372C>T

Select item 14888157506.

rs1488815750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:1598131 (GRCh38)
11:1619361 (GRCh37)
Canonical SPDI:: NC_000011.10:1598130:A:C,NC_000011.10:1598130:A:G
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000018/2 (GnomAD)
C=0.001281/36 (TOMMO)
HGVS:: NC_000011.10:g.1598131A>C, NC_000011.10:g.1598131A>G, NC_000011.9:g.1619361A>C, NC_000011.9:g.1619361A>G, NW_025791792.1:g.338107A>C, NW_025791792.1:g.338107A>G, NT_187657.1:g.74674A>C, NT_187657.1:g.74674A>G, NT_187584.1:g.80368A>C, NT_187584.1:g.80368A>G, NR_021489.2:n.1212A>C, NR_021489.2:n.1212A>G, NR_021489.1:n.1213A>C, NR_021489.1:n.1213A>G, NM_001004325.2:c.120T>G, NM_001004325.2:c.120T>C, NM_001004325.1:c.120T>G, NM_001004325.1:c.120T>C

Select item 14873025827.

rs1487302582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:1599371 (GRCh38)
11:1620601 (GRCh37)
Canonical SPDI:: NC_000011.10:1599370:G:C
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.1599371G>C, NC_000011.9:g.1620601G>C, NW_025791792.1:g.339347G>C, NT_187657.1:g.75914G>C, NT_187584.1:g.81608G>C

Select item 14872135288.

rs1487213528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1598585 (GRCh38)
11:1619815 (GRCh37)
Canonical SPDI:: NC_000011.10:1598584:G:A
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000011.10:g.1598585G>A, NC_000011.9:g.1619815G>A, NW_025791792.1:g.338561G>A, NT_187657.1:g.75128G>A, NT_187584.1:g.80822G>A, NR_021489.2:n.1666G>A, NR_021489.1:n.1667G>A

Select item 14852473509.

rs1485247350 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:1596736 (GRCh38)
11:1617967 (GRCh37)
Canonical SPDI:: NC_000011.10:1596736:TT:TTT
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.000108/2 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.1596738dup, NC_000011.9:g.1617968dup, NW_025791792.1:g.336714dup, NT_187657.1:g.73281dup, NT_187584.1:g.78975dup

Select item 148524528010.

rs1485245280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1597984 (GRCh38)
11:1619214 (GRCh37)
Canonical SPDI:: NC_000011.10:1597983:G:A
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1597984G>A, NC_000011.9:g.1619214G>A, NW_025791792.1:g.337960G>A, NT_187657.1:g.74527G>A, NT_187584.1:g.80221G>A, NR_021489.2:n.1065G>A, NR_021489.1:n.1066G>A, NM_001004325.2:c.267C>T, NM_001004325.1:c.267C>T

Select item 148479365111.

rs1484793651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1598946 (GRCh38)
11:1620176 (GRCh37)
Canonical SPDI:: NC_000011.10:1598945:G:A
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.1598946G>A, NC_000011.9:g.1620176G>A, NW_025791792.1:g.338922G>A, NT_187657.1:g.75489G>A, NT_187584.1:g.81183G>A, NR_021489.2:n.2027G>A, NR_021489.1:n.2028G>A

Select item 148404104412.

rs1484041044 [Homo sapiens]

Variant type:: DEL
Alleles:: GCC>- [Show Flanks]
Chromosome:: 11:1597984 (GRCh38)
11:1619214 (GRCh37)
Canonical SPDI:: NC_000011.10:1597983:GCC:
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.1597984_1597986del, NC_000011.9:g.1619214_1619216del, NW_025791792.1:g.337960_337962del, NT_187657.1:g.74527_74529del, NT_187584.1:g.80221_80223del, NR_021489.2:n.1065_1067del, NR_021489.1:n.1066_1068del, NM_001004325.2:c.265_267del, NM_001004325.1:c.265_267del, NP_001004325.1:p.Gly89del

Select item 148360437513.

rs1483604375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:1596680 (GRCh38)
11:1617910 (GRCh37)
Canonical SPDI:: NC_000011.10:1596679:C:G,NC_000011.10:1596679:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.01389/3 (Vietnamese)
HGVS:: NC_000011.10:g.1596680C>G, NC_000011.10:g.1596680C>T, NC_000011.9:g.1617910C>G, NC_000011.9:g.1617910C>T, NW_025791792.1:g.336656C>G, NW_025791792.1:g.336656C>T, NT_187657.1:g.73223C>G, NT_187657.1:g.73223C>T, NT_187584.1:g.78917C>G, NT_187584.1:g.78917C>T

Select item 148353560714.

rs1483535607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1599123 (GRCh38)
11:1620353 (GRCh37)
Canonical SPDI:: NC_000011.10:1599122:G:A
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/2 (GnomAD)
HGVS:: NC_000011.10:g.1599123G>A, NC_000011.9:g.1620353G>A, NW_025791792.1:g.339099G>A, NT_187657.1:g.75666G>A, NT_187584.1:g.81360G>A, NR_021489.2:n.2204G>A, NR_021489.1:n.2205G>A

Select item 148277530115.

rs1482775301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1598898 (GRCh38)
11:1620128 (GRCh37)
Canonical SPDI:: NC_000011.10:1598897:G:A
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.1598898G>A, NC_000011.9:g.1620128G>A, NW_025791792.1:g.338874G>A, NT_187657.1:g.75441G>A, NT_187584.1:g.81135G>A, NR_021489.2:n.1979G>A, NR_021489.1:n.1980G>A

Select item 148150407916.

rs1481504079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:1597027 (GRCh38)
11:1618257 (GRCh37)
Canonical SPDI:: NC_000011.10:1597026:G:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: intron_variant,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_000011.10:g.1597027G>T, NC_000011.9:g.1618257G>T, NW_025791792.1:g.337003G>T, NT_187657.1:g.73570G>T, NT_187584.1:g.79264G>T

Select item 148130902217.

rs1481309022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1598066 (GRCh38)
11:1619296 (GRCh37)
Canonical SPDI:: NC_000011.10:1598065:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1598066C>T, NC_000011.9:g.1619296C>T, NW_025791792.1:g.338042C>T, NT_187657.1:g.74609C>T, NT_187584.1:g.80303C>T, NR_021489.2:n.1147C>T, NR_021489.1:n.1148C>T, NM_001004325.2:c.185G>A, NM_001004325.1:c.185G>A, NP_001004325.1:p.Cys62Tyr

Select item 148094304718.

rs1480943047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1599393 (GRCh38)
11:1620623 (GRCh37)
Canonical SPDI:: NC_000011.10:1599392:A:G
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.1599393A>G, NC_000011.9:g.1620623A>G, NW_025791792.1:g.339369A>G, NT_187657.1:g.75936A>G, NT_187584.1:g.81630A>G

Select item 148032260219.

rs1480322602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:1599048 (GRCh38)
11:1620278 (GRCh37)
Canonical SPDI:: NC_000011.10:1599047:A:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.1599048A>T, NC_000011.9:g.1620278A>T, NW_025791792.1:g.339024A>T, NT_187657.1:g.75591A>T, NT_187584.1:g.81285A>T, NR_021489.2:n.2129A>T, NR_021489.1:n.2130A>T

Select item 147909303420.

rs1479093034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:1599625 (GRCh38)
11:1620855 (GRCh37)
Canonical SPDI:: NC_000011.10:1599624:A:C,NC_000011.10:1599624:A:G
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000216/4 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.1599625A>C, NC_000011.10:g.1599625A>G, NC_000011.9:g.1620855A>C, NC_000011.9:g.1620855A>G, NW_025791792.1:g.339601A>C, NW_025791792.1:g.339601A>G, NT_187657.1:g.76168A>C, NT_187657.1:g.76168A>G, NT_187584.1:g.81862A>C, NT_187584.1:g.81862A>G

<< First< Prev

Page of 48

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 951

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity