SNP Links for Gene (Select 4889) - SNP

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Select item 14915400811.

rs1491540081 has merged into rs142715363 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACACAC>-,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 4:163342992 (GRCh38)
4:164264144 (GRCh37)
Canonical SPDI:: NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000004.12:163342981:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000004.12:g.163342982AC[5], NC_000004.12:g.163342982AC[9], NC_000004.12:g.163342982AC[10], NC_000004.12:g.163342982AC[11], NC_000004.12:g.163342982AC[12], NC_000004.12:g.163342982AC[13], NC_000004.12:g.163342982AC[14], NC_000004.12:g.163342982AC[15], NC_000004.12:g.163342982AC[16], NC_000004.12:g.163342982AC[17], NC_000004.12:g.163342982AC[18], NC_000004.12:g.163342982AC[20], NC_000004.12:g.163342982AC[21], NC_000004.12:g.163342982AC[22], NC_000004.12:g.163342982AC[23], NC_000004.12:g.163342982AC[26], NC_000004.12:g.163342982AC[27], NC_000004.11:g.164264134AC[5], NC_000004.11:g.164264134AC[9], NC_000004.11:g.164264134AC[10], NC_000004.11:g.164264134AC[11], NC_000004.11:g.164264134AC[12], NC_000004.11:g.164264134AC[13], NC_000004.11:g.164264134AC[14], NC_000004.11:g.164264134AC[15], NC_000004.11:g.164264134AC[16], NC_000004.11:g.164264134AC[17], NC_000004.11:g.164264134AC[18], NC_000004.11:g.164264134AC[20], NC_000004.11:g.164264134AC[21], NC_000004.11:g.164264134AC[22], NC_000004.11:g.164264134AC[23], NC_000004.11:g.164264134AC[26], NC_000004.11:g.164264134AC[27]

Select item 14914643842.

rs1491464384 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:163350103 (GRCh38)
4:164271255 (GRCh37)
Canonical SPDI:: NC_000004.12:163350102:CA:
Gene:: NPY5R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.07747/919 (ALFA)
-=0.0099/279 (TOMMO)
HGVS:: NC_000004.12:g.163350103_163350104del, NC_000004.11:g.164271255_164271256del

Select item 14912471373.

rs1491247137 has merged into rs10599966 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:163350114 (GRCh38)
4:164271266 (GRCh37)
Canonical SPDI:: NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:163350103:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NPY5R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4097/2052 (1000Genomes)
HGVS:: NC_000004.12:g.163350114_163350125del, NC_000004.12:g.163350118_163350125del, NC_000004.12:g.163350120_163350125del, NC_000004.12:g.163350121_163350125del, NC_000004.12:g.163350122_163350125del, NC_000004.12:g.163350123_163350125del, NC_000004.12:g.163350124_163350125del, NC_000004.12:g.163350125del, NC_000004.12:g.163350125dup, NC_000004.12:g.163350124_163350125dup, NC_000004.12:g.163350123_163350125dup, NC_000004.12:g.163350122_163350125dup, NC_000004.12:g.163350121_163350125dup, NC_000004.12:g.163350120_163350125dup, NC_000004.11:g.164271266_164271277del, NC_000004.11:g.164271270_164271277del, NC_000004.11:g.164271272_164271277del, NC_000004.11:g.164271273_164271277del, NC_000004.11:g.164271274_164271277del, NC_000004.11:g.164271275_164271277del, NC_000004.11:g.164271276_164271277del, NC_000004.11:g.164271277del, NC_000004.11:g.164271277dup, NC_000004.11:g.164271276_164271277dup, NC_000004.11:g.164271275_164271277dup, NC_000004.11:g.164271274_164271277dup, NC_000004.11:g.164271273_164271277dup, NC_000004.11:g.164271272_164271277dup

Select item 14909929784.

rs1490992978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:163345689 (GRCh38)
4:164266841 (GRCh37)
Canonical SPDI:: NC_000004.12:163345688:G:C
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.163345689G>C, NC_000004.11:g.164266841G>C

Select item 14908745515.

rs1490874551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:163344575 (GRCh38)
4:164265727 (GRCh37)
Canonical SPDI:: NC_000004.12:163344574:G:A
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_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_000004.12:g.163344575G>A, NC_000004.11:g.164265727G>A, XM_005263031.5:c.-422C>T, XM_005263031.4:c.-422C>T, XM_005263031.3:c.-422C>T, XM_005263031.2:c.-422C>T, XM_005263031.1:c.-422C>T, NM_001317091.2:c.-1049G>A, NM_001317091.1:c.-1049G>A, XM_047415745.1:c.-1196G>A

Select item 14908192616.

rs1490819261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:163339636 (GRCh38)
4:164260788 (GRCh37)
Canonical SPDI:: NC_000004.12:163339635:C:T
Gene:: NPY1R (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.163339636C>T, NC_000004.11:g.164260788C>T

Select item 14905229817.

rs1490522981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:163342177 (GRCh38)
4:164263329 (GRCh37)
Canonical SPDI:: NC_000004.12:163342176:G:A,NC_000004.12:163342176:G:T
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.163342177G>A, NC_000004.12:g.163342177G>T, NC_000004.11:g.164263329G>A, NC_000004.11:g.164263329G>T

Select item 14902505448.

rs1490250544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:163352401 (GRCh38)
4:164273553 (GRCh37)
Canonical SPDI:: NC_000004.12:163352400:A:G
Gene:: NPY5R (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.163352401A>G, NC_000004.11:g.164273553A>G, XM_005263038.4:c.*790A>G, XM_005263038.2:c.*790A>G, XM_011532017.3:c.*790A>G, XM_011532017.1:c.*790A>G

Select item 14902446679.

rs1490244667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:163337373 (GRCh38)
4:164258525 (GRCh37)
Canonical SPDI:: NC_000004.12:163337372:G:A
Gene:: NPY1R (Varview)
Functional Consequence:: intron_variant,genic_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_000004.12:g.163337373G>A, NC_000004.11:g.164258525G>A

Select item 148984711710.

rs1489847117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:163345135 (GRCh38)
4:164266287 (GRCh37)
Canonical SPDI:: NC_000004.12:163345134:G:A
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_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_000004.12:g.163345135G>A, NC_000004.11:g.164266287G>A, NM_001317091.2:c.-489G>A, NM_001317091.1:c.-489G>A, XM_047415745.1:c.-636G>A

Select item 148971240511.

rs1489712405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:163346637 (GRCh38)
4:164267789 (GRCh37)
Canonical SPDI:: NC_000004.12:163346636:A:G
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.163346637A>G, NC_000004.11:g.164267789A>G

Select item 148944587612.

rs1489445876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:163335776 (GRCh38)
4:164256928 (GRCh37)
Canonical SPDI:: NC_000004.12:163335775:G:A,NC_000004.12:163335775:G:T
Gene:: NPY1R (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.163335776G>A, NC_000004.12:g.163335776G>T, NC_000004.11:g.164256928G>A, NC_000004.11:g.164256928G>T

Select item 148906815913.

rs1489068159 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTCACAGACAC>- [Show Flanks]
Chromosome:: 4:163342972 (GRCh38)
4:164264124 (GRCh37)
Canonical SPDI:: NC_000004.12:163342970:CTCTCTCACAGACAC:C
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
HGVS:: NC_000004.12:g.163342972_163342985del, NC_000004.11:g.164264124_164264137del

Select item 148903479014.

rs1489034790 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCCCCCACC [Show Flanks]
Chromosome:: 4:163343490 (GRCh38)
4:164264643 (GRCh37)
Canonical SPDI:: NC_000004.12:163343490:CCCCCACCGTCCCCCACC:CCCCCACCGTCCCCCACCGTCCCCCACC
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCCCCACCGTCCCCCACCGTCCCCCACC=0./0 (ALFA)
CCCCCACCGT=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.163343499_163343508dup, NC_000004.11:g.164264651_164264660dup

Select item 148900775415.

rs1489007754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:163343574 (GRCh38)
4:164264726 (GRCh37)
Canonical SPDI:: NC_000004.12:163343573:G:A,NC_000004.12:163343573:G:T
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_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_000004.12:g.163343574G>A, NC_000004.12:g.163343574G>T, NC_000004.11:g.164264726G>A, NC_000004.11:g.164264726G>T

Select item 148892734816.

rs1488927348 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:163342981 (GRCh38)
4:164264133 (GRCh37)
Canonical SPDI:: NC_000004.12:163342979:AGA:A
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01762/209 (ALFA)
-=0.05102/2717 (GnomAD)
HGVS:: NC_000004.12:g.163342981_163342982del, NC_000004.11:g.164264133_164264134del

Select item 148876175817.

rs1488761758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:163336211 (GRCh38)
4:164257363 (GRCh37)
Canonical SPDI:: NC_000004.12:163336210:A:G
Gene:: NPY1R (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.163336211A>G, NC_000004.11:g.164257363A>G

Select item 148870682618.

rs1488706826 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:163352374 (GRCh38)
4:164273526 (GRCh37)
Canonical SPDI:: NC_000004.12:163352373:TTT:TT
Gene:: NPY5R (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.163352376del, NC_000004.11:g.164273528del, XM_005263038.4:c.*765del, XM_005263038.2:c.*765del, XM_005263038.1:c.*765del, XM_011532017.3:c.*765del, XM_011532017.1:c.*765del

Select item 148840771319.

rs1488407713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:163336862 (GRCh38)
4:164258014 (GRCh37)
Canonical SPDI:: NC_000004.12:163336861:G:A
Gene:: NPY1R (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.163336862G>A, NC_000004.11:g.164258014G>A

Select item 148808844220.

rs1488088442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:163342634 (GRCh38)
4:164263786 (GRCh37)
Canonical SPDI:: NC_000004.12:163342633:T:C
Gene:: NPY1R (Varview), NPY5R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.163342634T>C, NC_000004.11:g.164263786T>C

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