SNP Links for Gene (Select 342574) - SNP

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Select item 14914044041.

rs1491404404 has merged into rs10710633 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:40782678 (GRCh38)
17:38938930 (GRCh37)
Canonical SPDI:: NC_000017.11:40782665:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:40782665:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:40782665:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:40782665:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:40782665:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:40782665:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KRT27 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.0067/26 (ALSPAC)
T=0.0073/27 (TWINSUK)
T=0.075/3 (GENOME_DK)
T=0.1496/749 (1000Genomes)
HGVS:: NC_000017.11:g.40782678_40782680del, NC_000017.11:g.40782679_40782680del, NC_000017.11:g.40782680del, NC_000017.11:g.40782680dup, NC_000017.11:g.40782679_40782680dup, NC_000017.11:g.40782672_40782680dup, NC_000017.10:g.38938930_38938932del, NC_000017.10:g.38938931_38938932del, NC_000017.10:g.38938932del, NC_000017.10:g.38938932dup, NC_000017.10:g.38938931_38938932dup, NC_000017.10:g.38938924_38938932dup, NG_012418.1:g.4867_4869del, NG_012418.1:g.4868_4869del, NG_012418.1:g.4869del, NG_012418.1:g.4869dup, NG_012418.1:g.4868_4869dup, NG_012418.1:g.4861_4869dup

Select item 14910715182.

rs1491071518 has merged into rs34748691 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT,CTCTCT [Show Flanks]
Chromosome:: 17:40781434 (GRCh38)
17:38937686 (GRCh37)
Canonical SPDI:: NC_000017.11:40781424:TCTCTCTCTCT:TCTCTCTCT,NC_000017.11:40781424:TCTCTCTCTCT:TCTCTCTCTCTCT,NC_000017.11:40781424:TCTCTCTCTCT:TCTCTCTCTCTCTCT
Gene:: KRT27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.33019/70 (Vietnamese)
TC=0.3654/1830 (1000Genomes)
-=0.38537/706 (Korea1K)
-=0.39505/6621 (TOMMO)
-=0.4/16 (GENOME_DK)
TC=0.43287/432 (GoNL)
-=0.43333/260 (NorthernSweden)
TC=0.44006/1696 (ALSPAC)
TC=0.45038/1670 (TWINSUK)
TC=0.48237/2161 (Estonian)
HGVS:: NC_000017.11:g.40781426CT[4], NC_000017.11:g.40781426CT[6], NC_000017.11:g.40781426CT[7], NC_000017.10:g.38937678CT[4], NC_000017.10:g.38937678CT[6], NC_000017.10:g.38937678CT[7], NG_012418.1:g.6101GA[4], NG_012418.1:g.6101GA[6], NG_012418.1:g.6101GA[7]

Select item 14908797153.

rs1490879715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:40779261 (GRCh38)
17:38935513 (GRCh37)
Canonical SPDI:: NC_000017.11:40779260:G:A,NC_000017.11:40779260:G:C
Gene:: KRT27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.40779261G>A, NC_000017.11:g.40779261G>C, NC_000017.10:g.38935513G>A, NC_000017.10:g.38935513G>C, NG_012418.1:g.8274C>T, NG_012418.1:g.8274C>G

Select item 14907675694.

rs1490767569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:40777047 (GRCh38)
17:38933299 (GRCh37)
Canonical SPDI:: NC_000017.11:40777046:C:G
Gene:: KRT27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40777047C>G, NC_000017.10:g.38933299C>G, NG_012487.1:g.113G>C, NG_012418.1:g.10488G>C, NM_181537.4:c.1332G>C, NM_181537.3:c.1332G>C, NP_853515.2:p.Glu444Asp

Select item 14898009565.

rs1489800956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40779303 (GRCh38)
17:38935555 (GRCh37)
Canonical SPDI:: NC_000017.11:40779302:A:G
Gene:: KRT27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40779303A>G, NC_000017.10:g.38935555A>G, NG_012418.1:g.8232T>C

Select item 14897253236.

rs1489725323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:40783409 (GRCh38)
17:38939661 (GRCh37)
Canonical SPDI:: NC_000017.11:40783408:G:C
Gene:: KRT27 (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.40783409G>C, NC_000017.10:g.38939661G>C, NG_012418.1:g.4126C>G

Select item 14894809687.

rs1489480968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40781290 (GRCh38)
17:38937542 (GRCh37)
Canonical SPDI:: NC_000017.11:40781289:T:C
Gene:: KRT27 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.40781290T>C, NC_000017.10:g.38937542T>C, NG_012418.1:g.6245A>G

Select item 14887295868.

rs1488729586 has merged into rs1208853052 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 17:40783553 (GRCh38)
17:38939805 (GRCh37)
Canonical SPDI:: NC_000017.11:40783546:CTCTCTCTCT:CTCTCT,NC_000017.11:40783546:CTCTCTCTCT:CTCTCTCT,NC_000017.11:40783546:CTCTCTCTCT:CTCTCTCTCTCT
Gene:: KRT27 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCT=0./0 (ALFA)
CT=0.00022/1 (Estonian)
HGVS:: NC_000017.11:g.40783547CT[3], NC_000017.11:g.40783547CT[4], NC_000017.11:g.40783547CT[6], NC_000017.10:g.38939799CT[3], NC_000017.10:g.38939799CT[4], NC_000017.10:g.38939799CT[6], NG_012418.1:g.3979AG[3], NG_012418.1:g.3979AG[4], NG_012418.1:g.3979AG[6]

Select item 14886244629.

rs1488624462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40779312 (GRCh38)
17:38935564 (GRCh37)
Canonical SPDI:: NC_000017.11:40779311:T:C
Gene:: KRT27 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.40779312T>C, NC_000017.10:g.38935564T>C, NG_012418.1:g.8223A>G

Select item 148860813310.

rs1488608133 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40782681 (GRCh38)
17:38938933 (GRCh37)
Canonical SPDI:: NC_000017.11:40782680:A:G
Gene:: KRT27 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000125/17 (GnomAD)
G=0.000156/1 (1000Genomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40782681A>G, NC_000017.10:g.38938933A>G, NG_012418.1:g.4854T>C

Select item 148785707611.

rs1487857076 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:40780194 (GRCh38)
17:38936446 (GRCh37)
Canonical SPDI:: NC_000017.11:40780193:GG:G
Gene:: KRT27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40780195del, NC_000017.10:g.38936447del, NG_012418.1:g.7341del

Select item 148776971812.

rs1487769718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40784287 (GRCh38)
17:38940539 (GRCh37)
Canonical SPDI:: NC_000017.11:40784286:C:T
Gene:: KRT27 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.40784287C>T, NC_000017.10:g.38940539C>T, NG_012418.1:g.3248G>A

Select item 148747392913.

rs1487473929 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:40777254 (GRCh38)
17:38933506 (GRCh37)
Canonical SPDI:: NC_000017.11:40777253:TTTT:TTT
Gene:: KRT27 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40777257del, NC_000017.10:g.38933509del, NG_012418.1:g.10281del, NM_181537.4:c.1239del, NM_181537.3:c.1239del, NP_853515.2:p.Asp414fs

Select item 148717080014.

rs1487170800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:40780751 (GRCh38)
17:38937003 (GRCh37)
Canonical SPDI:: NC_000017.11:40780750:A:T
Gene:: KRT27 (Varview)
Functional Consequence:: intron_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_000017.11:g.40780751A>T, NC_000017.10:g.38937003A>T, NG_012418.1:g.6784T>A

Select item 148657054515.

rs1486570545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40777564 (GRCh38)
17:38933816 (GRCh37)
Canonical SPDI:: NC_000017.11:40777563:G:A
Gene:: KRT27 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.40777564G>A, NC_000017.10:g.38933816G>A, NG_012418.1:g.9971C>T, NM_181537.4:c.1141C>T, NM_181537.3:c.1141C>T

Select item 148654030616.

rs1486540306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40776367 (GRCh38)
17:38932619 (GRCh37)
Canonical SPDI:: NC_000017.11:40776366:C:T
Gene:: KRT27 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.40776367C>T, NC_000017.10:g.38932619C>T, NG_012487.1:g.793G>A, NG_012418.1:g.11168G>A

Select item 148616143517.

rs1486161435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40778914 (GRCh38)
17:38935166 (GRCh37)
Canonical SPDI:: NC_000017.11:40778913:T:C
Gene:: KRT27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40778914T>C, NC_000017.10:g.38935166T>C, NG_012418.1:g.8621A>G

Select item 148589519918.

rs1485895199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40781033 (GRCh38)
17:38937285 (GRCh37)
Canonical SPDI:: NC_000017.11:40781032:C:T
Gene:: KRT27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40781033C>T, NC_000017.10:g.38937285C>T, NG_012418.1:g.6502G>A

Select item 148556227119.

rs1485562271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40781579 (GRCh38)
17:38937831 (GRCh37)
Canonical SPDI:: NC_000017.11:40781578:G:A
Gene:: KRT27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40781579G>A, NC_000017.10:g.38937831G>A, NG_012418.1:g.5956C>T

Select item 148528614920.

rs1485286149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40782183 (GRCh38)
17:38938435 (GRCh37)
Canonical SPDI:: NC_000017.11:40782182:G:A
Gene:: KRT27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.40782183G>A, NC_000017.10:g.38938435G>A, NG_012418.1:g.5352C>T, NM_181537.4:c.311C>T, NM_181537.3:c.311C>T, NP_853515.2:p.Ala104Val

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