SNP Links for Nucleotide (Select 459215039) - SNP

Links from Nucleotide

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Select item 14911990741.

rs1491199074 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:79375925 (GRCh38)
5:78671748 (GRCh37)
Canonical SPDI:: NC_000005.10:79375922:TGTG:TG
Gene:: HOMER1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0./0 (ALFA)
HGVS:: NC_000005.10:g.79375923TG[1], NC_000005.9:g.78671746TG[1], NM_004272.5:c.*83CA[1], NM_004272.4:c.*83CA[1], XM_047417894.1:c.*83CA[1], NM_001277078.1:c.*265CA[1], NM_001277077.1:c.*83CA[1]

Select item 14910834412.

rs1491083441 has merged into rs34470593 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:79375920 (GRCh38)
5:78671743 (GRCh37)
Canonical SPDI:: NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:79375904:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HOMER1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.79375920_79375923del, NC_000005.10:g.79375921_79375923del, NC_000005.10:g.79375922_79375923del, NC_000005.10:g.79375923del, NC_000005.10:g.79375923dup, NC_000005.10:g.79375922_79375923dup, NC_000005.10:g.79375921_79375923dup, NC_000005.10:g.79375920_79375923dup, NC_000005.10:g.79375919_79375923dup, NC_000005.10:g.79375918_79375923dup, NC_000005.10:g.79375915_79375923dup, NC_000005.10:g.79375912_79375923dup, NC_000005.9:g.78671743_78671746del, NC_000005.9:g.78671744_78671746del, NC_000005.9:g.78671745_78671746del, NC_000005.9:g.78671746del, NC_000005.9:g.78671746dup, NC_000005.9:g.78671745_78671746dup, NC_000005.9:g.78671744_78671746dup, NC_000005.9:g.78671743_78671746dup, NC_000005.9:g.78671742_78671746dup, NC_000005.9:g.78671741_78671746dup, NC_000005.9:g.78671738_78671746dup, NC_000005.9:g.78671735_78671746dup, NM_004272.5:c.*101_*104del, NM_004272.5:c.*102_*104del, NM_004272.5:c.*103_*104del, NM_004272.5:c.*104del, NM_004272.5:c.*104dup, NM_004272.5:c.*103_*104dup, NM_004272.5:c.*102_*104dup, NM_004272.5:c.*101_*104dup, NM_004272.5:c.*100_*104dup, NM_004272.5:c.*99_*104dup, NM_004272.5:c.*96_*104dup, NM_004272.5:c.*93_*104dup, NM_004272.4:c.*101_*104del, NM_004272.4:c.*102_*104del, NM_004272.4:c.*103_*104del, NM_004272.4:c.*104del, NM_004272.4:c.*104dup, NM_004272.4:c.*103_*104dup, NM_004272.4:c.*102_*104dup, NM_004272.4:c.*101_*104dup, NM_004272.4:c.*100_*104dup, NM_004272.4:c.*99_*104dup, NM_004272.4:c.*96_*104dup, NM_004272.4:c.*93_*104dup, XM_047417894.1:c.*101_*104del, XM_047417894.1:c.*102_*104del, XM_047417894.1:c.*103_*104del, XM_047417894.1:c.*104del, XM_047417894.1:c.*104dup, XM_047417894.1:c.*103_*104dup, XM_047417894.1:c.*102_*104dup, XM_047417894.1:c.*101_*104dup, XM_047417894.1:c.*100_*104dup, XM_047417894.1:c.*99_*104dup, XM_047417894.1:c.*96_*104dup, XM_047417894.1:c.*93_*104dup, NM_001277078.1:c.*283_*286del, NM_001277078.1:c.*284_*286del, NM_001277078.1:c.*285_*286del, NM_001277078.1:c.*286del, NM_001277078.1:c.*286dup, NM_001277078.1:c.*285_*286dup, NM_001277078.1:c.*284_*286dup, NM_001277078.1:c.*283_*286dup, NM_001277078.1:c.*282_*286dup, NM_001277078.1:c.*281_*286dup, NM_001277078.1:c.*278_*286dup, NM_001277078.1:c.*275_*286dup, NM_001277077.1:c.*101_*104del, NM_001277077.1:c.*102_*104del, NM_001277077.1:c.*103_*104del, NM_001277077.1:c.*104del, NM_001277077.1:c.*104dup, NM_001277077.1:c.*103_*104dup, NM_001277077.1:c.*102_*104dup, NM_001277077.1:c.*101_*104dup, NM_001277077.1:c.*100_*104dup, NM_001277077.1:c.*99_*104dup, NM_001277077.1:c.*96_*104dup, NM_001277077.1:c.*93_*104dup

Select item 14893972563.

rs1489397256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:79375501 (GRCh38)
5:78671324 (GRCh37)
Canonical SPDI:: NC_000005.10:79375500:G:C,NC_000005.10:79375500:G:T
Gene:: HOMER1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.79375501G>C, NC_000005.10:g.79375501G>T, NC_000005.9:g.78671324G>C, NC_000005.9:g.78671324G>T, NM_004272.5:c.*508C>G, NM_004272.5:c.*508C>A, NM_004272.4:c.*508C>G, NM_004272.4:c.*508C>A, XM_047417894.1:c.*508C>G, XM_047417894.1:c.*508C>A, NM_001277078.1:c.*690C>G, NM_001277078.1:c.*690C>A, NM_001277077.1:c.*508C>G, NM_001277077.1:c.*508C>A

Select item 14877800094.

rs1487780009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:79513616 (GRCh38)
5:78809439 (GRCh37)
Canonical SPDI:: NC_000005.10:79513615:G:A
Gene:: HOMER1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.79513616G>A, NC_000005.9:g.78809439G>A, NM_004272.5:c.-842C>T, NM_004272.4:c.-842C>T, XM_017010059.3:c.-842C>T, XM_017010059.1:c.-842C>T, NM_001277078.1:c.-842C>T, NM_001277077.1:c.-842C>T

Select item 14874583545.

rs1487458354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:79513254 (GRCh38)
5:78809077 (GRCh37)
Canonical SPDI:: NC_000005.10:79513253:G:T
Gene:: HOMER1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.79513254G>T, NC_000005.9:g.78809077G>T, NM_004272.5:c.-480C>A, NM_004272.4:c.-480C>A, XM_017010059.3:c.-480C>A, XM_017010059.1:c.-480C>A, NM_001277078.1:c.-480C>A, NM_001277077.1:c.-480C>A

Select item 14874051786.

rs1487405178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:79375904 (GRCh38)
5:78671727 (GRCh37)
Canonical SPDI:: NC_000005.10:79375903:A:G,NC_000005.10:79375903:A:T
Gene:: HOMER1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000137/17 (GnomAD)
T=0.014031/41 (KOREAN)
HGVS:: NC_000005.10:g.79375904A>G, NC_000005.10:g.79375904A>T, NC_000005.9:g.78671727A>G, NC_000005.9:g.78671727A>T, NM_004272.5:c.*105T>C, NM_004272.5:c.*105T>A, NM_004272.4:c.*105T>C, NM_004272.4:c.*105T>A, XM_047417894.1:c.*105T>C, XM_047417894.1:c.*105T>A, NM_001277078.1:c.*287T>C, NM_001277078.1:c.*287T>A, NM_001277077.1:c.*105T>C, NM_001277077.1:c.*105T>A

Select item 14871661637.

rs1487166163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:79375686 (GRCh38)
5:78671509 (GRCh37)
Canonical SPDI:: NC_000005.10:79375685:G:C
Gene:: HOMER1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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_000005.10:g.79375686G>C, NC_000005.9:g.78671509G>C, NM_004272.5:c.*323C>G, NM_004272.4:c.*323C>G, XM_047417894.1:c.*323C>G, NM_001277078.1:c.*505C>G, NM_001277077.1:c.*323C>G

Select item 14863456758.

rs1486345675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:79439142 (GRCh38)
5:78734965 (GRCh37)
Canonical SPDI:: NC_000005.10:79439141:G:A
Gene:: HOMER1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.79439142G>A, NC_000005.9:g.78734965G>A, NM_004272.5:c.395C>T, NM_004272.4:c.395C>T, XM_017010059.3:c.395C>T, XM_017010059.2:c.395C>T, XM_017010059.1:c.395C>T, XM_047417894.1:c.203C>T, NM_001277078.1:c.395C>T, NP_004263.1:p.Ala132Val, XP_016865548.1:p.Ala132Val, XP_047273850.1:p.Ala68Val, NP_001264007.1:p.Ala132Val

Select item 14860165659.

rs1486016565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:79512836 (GRCh38)
5:78808659 (GRCh37)
Canonical SPDI:: NC_000005.10:79512835:G:C
Gene:: HOMER1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000005.10:g.79512836G>C, NC_000005.9:g.78808659G>C, NM_004272.5:c.-62C>G, NM_004272.4:c.-62C>G, XM_017010059.3:c.-62C>G, XM_017010059.2:c.-62C>G, XM_017010059.1:c.-62C>G, NM_001277078.1:c.-62C>G, NM_001277077.1:c.-62C>G

Select item 148525322810.

rs1485253228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:79374035 (GRCh38)
5:78669858 (GRCh37)
Canonical SPDI:: NC_000005.10:79374034:T:A
Gene:: HOMER1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.79374035T>A, NC_000005.9:g.78669858T>A, NM_004272.5:c.*1974A>T, NM_004272.4:c.*1974A>T, XM_047417894.1:c.*1974A>T, NM_001277078.1:c.*2156A>T, NM_001277077.1:c.*1974A>T

Select item 148521817511.

rs1485218175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:79374646 (GRCh38)
5:78670469 (GRCh37)
Canonical SPDI:: NC_000005.10:79374645:G:A,NC_000005.10:79374645:G:T
Gene:: HOMER1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.79374646G>A, NC_000005.10:g.79374646G>T, NC_000005.9:g.78670469G>A, NC_000005.9:g.78670469G>T, NM_004272.5:c.*1363C>T, NM_004272.5:c.*1363C>A, NM_004272.4:c.*1363C>T, NM_004272.4:c.*1363C>A, XM_047417894.1:c.*1363C>T, XM_047417894.1:c.*1363C>A, NM_001277078.1:c.*1545C>T, NM_001277078.1:c.*1545C>A, NM_001277077.1:c.*1363C>T, NM_001277077.1:c.*1363C>A

Select item 148458293112.

rs1484582931 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148407299113.

rs1484072991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:79512945 (GRCh38)
5:78808768 (GRCh37)
Canonical SPDI:: NC_000005.10:79512944:T:A
Gene:: HOMER1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.79512945T>A, NC_000005.9:g.78808768T>A, NM_004272.5:c.-171A>T, NM_004272.4:c.-171A>T, XM_017010059.3:c.-171A>T, XM_017010059.2:c.-171A>T, XM_017010059.1:c.-171A>T, NM_001277078.1:c.-171A>T, NM_001277077.1:c.-171A>T

Select item 148319638514.

rs1483196385 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:79512829 (GRCh38)
5:78808652 (GRCh37)
Canonical SPDI:: NC_000005.10:79512828:T:C
Gene:: HOMER1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.79512829T>C, NC_000005.9:g.78808652T>C, NM_004272.5:c.-55A>G, NM_004272.4:c.-55A>G, XM_017010059.3:c.-55A>G, XM_017010059.2:c.-55A>G, XM_017010059.1:c.-55A>G, NM_001277078.1:c.-55A>G, NM_001277077.1:c.-55A>G

Select item 148316776315.

rs1483167763 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:79376164 (GRCh38)
5:78671987 (GRCh37)
Canonical SPDI:: NC_000005.10:79376163:G:
Gene:: HOMER1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.79376164del, NC_000005.9:g.78671987del, NM_004272.5:c.910del, NM_004272.4:c.910del, XM_047417894.1:c.718del, NM_001277078.1:c.*27del, NM_001277077.1:c.520del, NP_004263.1:p.Gln304fs, XP_047273850.1:p.Gln240fs, NP_001264006.1:p.Gln174fs

Select item 147975180916.

rs1479751809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:79375370 (GRCh38)
5:78671193 (GRCh37)
Canonical SPDI:: NC_000005.10:79375369:C:A
Gene:: HOMER1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.79375370C>A, NC_000005.9:g.78671193C>A, NM_004272.5:c.*639G>T, NM_004272.4:c.*639G>T, XM_047417894.1:c.*639G>T, NM_001277078.1:c.*821G>T, NM_001277077.1:c.*639G>T

Select item 147846443817.

rs1478464438 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:79375241 (GRCh38)
5:78671064 (GRCh37)
Canonical SPDI:: NC_000005.10:79375239:TCT:T
Gene:: HOMER1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.79375241_79375242del, NC_000005.9:g.78671064_78671065del, NM_004272.5:c.*768_*769del, NM_004272.4:c.*768_*769del, XM_047417894.1:c.*768_*769del, NM_001277078.1:c.*950_*951del, NM_001277077.1:c.*768_*769del

Select item 147775330818.

rs1477753308 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 5:79375089 (GRCh38)
5:78670912 (GRCh37)
Canonical SPDI:: NC_000005.10:79375086:ATCAT:AT
Gene:: HOMER1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.79375089_79375091del, NC_000005.9:g.78670912_78670914del, NM_004272.5:c.*920_*922del, NM_004272.4:c.*920_*922del, XM_047417894.1:c.*920_*922del, NM_001277078.1:c.*1102_*1104del, NM_001277077.1:c.*920_*922del

Select item 147728164819.

rs1477281648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:79513665 (GRCh38)
5:78809488 (GRCh37)
Canonical SPDI:: NC_000005.10:79513664:T:C
Gene:: HOMER1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.79513665T>C, NC_000005.9:g.78809488T>C, NM_004272.5:c.-891A>G, NM_004272.4:c.-891A>G, XM_017010059.3:c.-891A>G, XM_017010059.1:c.-891A>G, NM_001277078.1:c.-891A>G, NM_001277077.1:c.-891A>G

Select item 147704476220.

rs1477044762 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:79513362 (GRCh38)
5:78809186 (GRCh37)
Canonical SPDI:: NC_000005.10:79513362:T:TT
Gene:: HOMER1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.79513363dup, NC_000005.9:g.78809186dup, NM_004272.5:c.-589dup, NM_004272.4:c.-589dup, XM_017010059.3:c.-589dup, XM_017010059.1:c.-589dup, NM_001277078.1:c.-589dup, NM_001277077.1:c.-589dup

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