SNP Links for Gene (Select 124923) - SNP

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Select item 14908773901.

rs1490877390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:28609065 (GRCh38)
17:26936083 (GRCh37)
Canonical SPDI:: NC_000017.11:28609064:C:A
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00335/56 (TOMMO)
HGVS:: NC_000017.11:g.28609065C>A, NC_000017.10:g.26936083C>A, NM_001174103.2:c.*1413G>T, NM_001174103.1:c.*1413G>T, NM_001287207.1:c.*1413G>T

Select item 14907238262.

rs1490723826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28609734 (GRCh38)
17:26936752 (GRCh37)
Canonical SPDI:: NC_000017.11:28609733:A:G
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000018/2 (GnomAD)
G=0.000288/5 (TOMMO)
HGVS:: NC_000017.11:g.28609734A>G, NC_000017.10:g.26936752A>G, NM_001174103.2:c.*744T>C, NM_001174103.1:c.*744T>C, NM_001287207.1:c.*744T>C

Select item 14905600873.

rs1490560087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28608592 (GRCh38)
17:26935610 (GRCh37)
Canonical SPDI:: NC_000017.11:28608591:G:T
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.28608592G>T, NC_000017.10:g.26935610G>T, NM_001174103.2:c.*1886C>A, NM_001174103.1:c.*1886C>A, NM_001287207.1:c.*1886C>A

Select item 14894888344.

rs1489488834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28610223 (GRCh38)
17:26937241 (GRCh37)
Canonical SPDI:: NC_000017.11:28610222:G:A
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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.28610223G>A, NC_000017.10:g.26937241G>A, NM_001174103.2:c.*255C>T, NM_001174103.1:c.*255C>T, NM_001287207.1:c.*255C>T, NR_024395.1:n.641C>T

Select item 14892144345.

rs1489214434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:28613574 (GRCh38)
17:26940592 (GRCh37)
Canonical SPDI:: NC_000017.11:28613573:G:A,NC_000017.11:28613573:G:C
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000684/2 (KOREAN)
HGVS:: NC_000017.11:g.28613574G>A, NC_000017.11:g.28613574G>C, NC_000017.10:g.26940592G>A, NC_000017.10:g.26940592G>C, NG_053109.1:g.36881C>T, NG_053109.1:g.36881C>G, NM_001174103.2:c.190C>T, NM_001174103.2:c.190C>G, NM_001174103.1:c.190C>T, NM_001174103.1:c.190C>G, NM_001287207.1:c.190C>T, NM_001287207.1:c.190C>G, NM_144610.1:c.190C>T, NM_144610.1:c.190C>G, NP_001167574.1:p.Leu64Val

Select item 14888477756.

rs1488847775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28613741 (GRCh38)
17:26940759 (GRCh37)
Canonical SPDI:: NC_000017.11:28613740:T:C
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: intron_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.28613741T>C, NC_000017.10:g.26940759T>C, NG_053109.1:g.36714A>G

Select item 14884437207.

rs1488443720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28614424 (GRCh38)
17:26941442 (GRCh37)
Canonical SPDI:: NC_000017.11:28614423:C:T
Gene:: KIAA0100 (Varview), RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.28614424C>T, NC_000017.10:g.26941442C>T, NG_053109.1:g.36031G>A

Select item 14883942968.

rs1488394296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28615550 (GRCh38)
17:26942568 (GRCh37)
Canonical SPDI:: NC_000017.11:28615549:C:T
Gene:: KIAA0100 (Varview), RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28615550C>T, NC_000017.10:g.26942568C>T, NG_053109.1:g.34905G>A

Select item 14883941699.

rs1488394169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28608554 (GRCh38)
17:26935572 (GRCh37)
Canonical SPDI:: NC_000017.11:28608553:C:T
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28608554C>T, NC_000017.10:g.26935572C>T, NM_001174103.2:c.*1924G>A, NM_001174103.1:c.*1924G>A, NM_001287207.1:c.*1924G>A

Select item 148834618110.

rs1488346181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28614473 (GRCh38)
17:26941491 (GRCh37)
Canonical SPDI:: NC_000017.11:28614472:C:T
Gene:: KIAA0100 (Varview), RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0035/20 (ALFA)
HGVS:: NC_000017.11:g.28614473C>T, NC_000017.10:g.26941491C>T, NG_053109.1:g.35982G>A, NM_014680.5:c.*591G>A, NM_014680.4:c.*591G>A, NM_014680.3:c.*591G>A, NM_001321560.2:c.*591G>A, NM_001321560.1:c.*591G>A, NM_001363829.1:c.*591G>A, NM_001363827.1:c.*591G>A, NM_001363826.1:c.*591G>A, NM_001363828.1:c.*591G>A

Select item 148832382511.

rs1488323825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28611348 (GRCh38)
17:26938366 (GRCh37)
Canonical SPDI:: NC_000017.11:28611347:C:T
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28611348C>T, NC_000017.10:g.26938366C>T

Select item 148828288612.

rs1488282886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28615994 (GRCh38)
17:26943012 (GRCh37)
Canonical SPDI:: NC_000017.11:28615993:G:A
Gene:: KIAA0100 (Varview), RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.28615994G>A, NC_000017.10:g.26943012G>A, NG_053109.1:g.34461C>T

Select item 148821026313.

rs1488210263 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTAATCC>- [Show Flanks]
Chromosome:: 17:28607621 (GRCh38)
17:26934639 (GRCh37)
Canonical SPDI:: NC_000017.11:28607618:CCTGTAATCC:CC
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000312/2 (1000Genomes)
-=0.001638/3 (Korea1K)
-=0.012032/202 (TOMMO)
HGVS:: NC_000017.11:g.28607621_28607628del, NC_000017.10:g.26934639_26934646del

Select item 148817230914.

rs1488172309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28614776 (GRCh38)
17:26941794 (GRCh37)
Canonical SPDI:: NC_000017.11:28614775:C:T
Gene:: KIAA0100 (Varview), RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.28614776C>T, NC_000017.10:g.26941794C>T, NG_053109.1:g.35679G>A, NM_014680.5:c.*288G>A, NM_014680.4:c.*288G>A, NM_014680.3:c.*288G>A, NM_001321560.2:c.*288G>A, NM_001321560.1:c.*288G>A, NM_001363829.1:c.*288G>A, NM_001363827.1:c.*288G>A, NM_001363826.1:c.*288G>A, NM_001363828.1:c.*288G>A

Select item 148807348415.

rs1488073484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28608021 (GRCh38)
17:26935039 (GRCh37)
Canonical SPDI:: NC_000017.11:28608020:G:A
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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.28608021G>A, NC_000017.10:g.26935039G>A, NM_001174103.2:c.*2457C>T, NM_001174103.1:c.*2457C>T, NM_001287207.1:c.*2457C>T, NM_144610.1:c.*519C>T

Select item 148775337216.

rs1487753372 has merged into rs890068022 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:28609748 (GRCh38)
17:26936766 (GRCh37)
Canonical SPDI:: NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28609738:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAAA=0.00356/2 (NorthernSweden)
HGVS:: NC_000017.11:g.28609748_28609765del, NC_000017.11:g.28609751_28609765del, NC_000017.11:g.28609752_28609765del, NC_000017.11:g.28609753_28609765del, NC_000017.11:g.28609754_28609765del, NC_000017.11:g.28609755_28609765del, NC_000017.11:g.28609756_28609765del, NC_000017.11:g.28609757_28609765del, NC_000017.11:g.28609758_28609765del, NC_000017.11:g.28609759_28609765del, NC_000017.11:g.28609760_28609765del, NC_000017.11:g.28609761_28609765del, NC_000017.11:g.28609762_28609765del, NC_000017.11:g.28609763_28609765del, NC_000017.11:g.28609764_28609765del, NC_000017.11:g.28609765del, NC_000017.11:g.28609765dup, NC_000017.11:g.28609764_28609765dup, NC_000017.11:g.28609763_28609765dup, NC_000017.11:g.28609762_28609765dup, NC_000017.11:g.28609759_28609765dup, NC_000017.10:g.26936766_26936783del, NC_000017.10:g.26936769_26936783del, NC_000017.10:g.26936770_26936783del, NC_000017.10:g.26936771_26936783del, NC_000017.10:g.26936772_26936783del, NC_000017.10:g.26936773_26936783del, NC_000017.10:g.26936774_26936783del, NC_000017.10:g.26936775_26936783del, NC_000017.10:g.26936776_26936783del, NC_000017.10:g.26936777_26936783del, NC_000017.10:g.26936778_26936783del, NC_000017.10:g.26936779_26936783del, NC_000017.10:g.26936780_26936783del, NC_000017.10:g.26936781_26936783del, NC_000017.10:g.26936782_26936783del, NC_000017.10:g.26936783del, NC_000017.10:g.26936783dup, NC_000017.10:g.26936782_26936783dup, NC_000017.10:g.26936781_26936783dup, NC_000017.10:g.26936780_26936783dup, NC_000017.10:g.26936777_26936783dup, NM_001174103.2:c.*722_*739del, NM_001174103.2:c.*725_*739del, NM_001174103.2:c.*726_*739del, NM_001174103.2:c.*727_*739del, NM_001174103.2:c.*728_*739del, NM_001174103.2:c.*729_*739del, NM_001174103.2:c.*730_*739del, NM_001174103.2:c.*731_*739del, NM_001174103.2:c.*732_*739del, NM_001174103.2:c.*733_*739del, NM_001174103.2:c.*734_*739del, NM_001174103.2:c.*735_*739del, NM_001174103.2:c.*736_*739del, NM_001174103.2:c.*737_*739del, NM_001174103.2:c.*738_*739del, NM_001174103.2:c.*739del, NM_001174103.2:c.*739dup, NM_001174103.2:c.*738_*739dup, NM_001174103.2:c.*737_*739dup, NM_001174103.2:c.*736_*739dup, NM_001174103.2:c.*733_*739dup, NM_001174103.1:c.*722_*739del, NM_001174103.1:c.*725_*739del, NM_001174103.1:c.*726_*739del, NM_001174103.1:c.*727_*739del, NM_001174103.1:c.*728_*739del, NM_001174103.1:c.*729_*739del, NM_001174103.1:c.*730_*739del, NM_001174103.1:c.*731_*739del, NM_001174103.1:c.*732_*739del, NM_001174103.1:c.*733_*739del, NM_001174103.1:c.*734_*739del, NM_001174103.1:c.*735_*739del, NM_001174103.1:c.*736_*739del, NM_001174103.1:c.*737_*739del, NM_001174103.1:c.*738_*739del, NM_001174103.1:c.*739del, NM_001174103.1:c.*739dup, NM_001174103.1:c.*738_*739dup, NM_001174103.1:c.*737_*739dup, NM_001174103.1:c.*736_*739dup, NM_001174103.1:c.*733_*739dup, NM_001287207.1:c.*722_*739del, NM_001287207.1:c.*725_*739del, NM_001287207.1:c.*726_*739del, NM_001287207.1:c.*727_*739del, NM_001287207.1:c.*728_*739del, NM_001287207.1:c.*729_*739del, NM_001287207.1:c.*730_*739del, NM_001287207.1:c.*731_*739del, NM_001287207.1:c.*732_*739del, NM_001287207.1:c.*733_*739del, NM_001287207.1:c.*734_*739del, NM_001287207.1:c.*735_*739del, NM_001287207.1:c.*736_*739del, NM_001287207.1:c.*737_*739del, NM_001287207.1:c.*738_*739del, NM_001287207.1:c.*739del, NM_001287207.1:c.*739dup, NM_001287207.1:c.*738_*739dup, NM_001287207.1:c.*737_*739dup, NM_001287207.1:c.*736_*739dup, NM_001287207.1:c.*733_*739dup

Select item 148770716817.

rs1487707168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28608687 (GRCh38)
17:26935705 (GRCh37)
Canonical SPDI:: NC_000017.11:28608686:G:T
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.28608687G>T, NC_000017.10:g.26935705G>T, NM_001174103.2:c.*1791C>A, NM_001174103.1:c.*1791C>A, NM_001287207.1:c.*1791C>A

Select item 148741835718.

rs1487418357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:28616146 (GRCh38)
17:26943164 (GRCh37)
Canonical SPDI:: NC_000017.11:28616145:A:T
Gene:: KIAA0100 (Varview), RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28616146A>T, NC_000017.10:g.26943164A>T, NG_053109.1:g.34309T>A, NM_014680.5:c.6340T>A, NM_014680.4:c.6340T>A, NM_014680.3:c.6340T>A, NM_001321560.2:c.6337T>A, NM_001321560.1:c.6337T>A, NM_001363829.1:c.4312T>A, NM_001363827.1:c.5335T>A, NM_001363826.1:c.5911T>A, NM_001363828.1:c.4315T>A, NP_055495.2:p.Ser2114Thr, NP_001308489.1:p.Ser2113Thr, NP_001350758.1:p.Ser1438Thr, NP_001350756.1:p.Ser1779Thr, NP_001350755.1:p.Ser1971Thr, NP_001350757.1:p.Ser1439Thr

Select item 148697888519.

rs1486978885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28611139 (GRCh38)
17:26938157 (GRCh37)
Canonical SPDI:: NC_000017.11:28611138:T:C
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28611139T>C, NC_000017.10:g.26938157T>C

Select item 148692838420.

rs1486928384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28612278 (GRCh38)
17:26939296 (GRCh37)
Canonical SPDI:: NC_000017.11:28612277:C:T
Gene:: RSKR (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000075/3 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000024/6 (GnomAD_exomes)
T=0.00003/8 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.28612278C>T, NC_000017.10:g.26939296C>T, NM_001174103.2:c.636G>A, NM_001174103.1:c.636G>A, NM_001287207.1:c.636G>A, NM_144610.1:c.636G>A

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