SNP Links for Nucleotide (Select 1216866544) - SNP

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Select item 14915538941.

rs1491553894 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14914912822.

rs1491491282 has merged into rs34537809 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:101151807 (GRCh38)
7:100795088 (GRCh37)
Canonical SPDI:: NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101151797:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.0833/50 (NorthernSweden)
TT=0.4982/2495 (1000Genomes)
HGVS:: NC_000007.14:g.101151807_101151816del, NC_000007.14:g.101151808_101151816del, NC_000007.14:g.101151812_101151816del, NC_000007.14:g.101151813_101151816del, NC_000007.14:g.101151814_101151816del, NC_000007.14:g.101151815_101151816del, NC_000007.14:g.101151816del, NC_000007.14:g.101151816dup, NC_000007.14:g.101151815_101151816dup, NC_000007.14:g.101151814_101151816dup, NC_000007.14:g.101151813_101151816dup, NC_000007.14:g.101151810_101151816dup, NC_000007.13:g.100795088_100795097del, NC_000007.13:g.100795089_100795097del, NC_000007.13:g.100795093_100795097del, NC_000007.13:g.100795094_100795097del, NC_000007.13:g.100795095_100795097del, NC_000007.13:g.100795096_100795097del, NC_000007.13:g.100795097del, NC_000007.13:g.100795097dup, NC_000007.13:g.100795096_100795097dup, NC_000007.13:g.100795095_100795097dup, NC_000007.13:g.100795094_100795097dup, NC_000007.13:g.100795091_100795097dup, NG_033082.2:g.2410_2419del, NG_033082.2:g.2411_2419del, NG_033082.2:g.2415_2419del, NG_033082.2:g.2416_2419del, NG_033082.2:g.2417_2419del, NG_033082.2:g.2418_2419del, NG_033082.2:g.2419del, NG_033082.2:g.2419dup, NG_033082.2:g.2418_2419dup, NG_033082.2:g.2417_2419dup, NG_033082.2:g.2416_2419dup, NG_033082.2:g.2413_2419dup

Select item 14914838383.

rs1491483838 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTA
Chromosome:: no mapping
Canonical SPDI:

Select item 14914392954.

rs1491439295 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:101151816 (GRCh38)
7:100795097 (GRCh37)
Canonical SPDI:: NC_000007.14:101151815:TG:
Validated:: by frequency,by alfa
MAF:: -=0.00375/61 (ALFA)
-=0.00212/60 (TOMMO)
HGVS:: NC_000007.14:g.101151816_101151817del, NC_000007.13:g.100795097_100795098del, NG_033082.2:g.2419_2420del

Select item 14914301535.

rs1491430153 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAATAA [Show Flanks]
Chromosome:: 7:101151162 (GRCh38)
7:100794444 (GRCh37)
Canonical SPDI:: NC_000007.14:101151162:AA:AATAAATAA
Validated:: by frequency,by alfa
MAF:: AATAAATAA=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.101151163_101151164AATA[2]A[1], NC_000007.13:g.100794444_100794445AATA[2]A[1], NG_033082.2:g.1766_1767AATA[2]A[1]

Select item 14914196276.

rs1491419627 has merged into rs61567150 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:101151169 (GRCh38)
7:100794450 (GRCh37)
Canonical SPDI:: NC_000007.14:101151161:AAAAAAAAAAAA:AAAAAAA,NC_000007.14:101151161:AAAAAAAAAAAA:AAAAAAAA,NC_000007.14:101151161:AAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:101151161:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:101151161:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:101151161:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:101151161:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:101151161:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
-=0.4749/284 (NorthernSweden)
HGVS:: NC_000007.14:g.101151169_101151173del, NC_000007.14:g.101151170_101151173del, NC_000007.14:g.101151172_101151173del, NC_000007.14:g.101151173del, NC_000007.14:g.101151173dup, NC_000007.14:g.101151171_101151173dup, NC_000007.14:g.101151170_101151173dup, NC_000007.14:g.101151166_101151173dup, NC_000007.13:g.100794450_100794454del, NC_000007.13:g.100794451_100794454del, NC_000007.13:g.100794453_100794454del, NC_000007.13:g.100794454del, NC_000007.13:g.100794454dup, NC_000007.13:g.100794452_100794454dup, NC_000007.13:g.100794451_100794454dup, NC_000007.13:g.100794447_100794454dup, NG_033082.2:g.1772_1776del, NG_033082.2:g.1773_1776del, NG_033082.2:g.1775_1776del, NG_033082.2:g.1776del, NG_033082.2:g.1776dup, NG_033082.2:g.1774_1776dup, NG_033082.2:g.1773_1776dup, NG_033082.2:g.1769_1776dup

Select item 14914085797.

rs1491408579 has merged into rs767772928 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGC>-,GC,GCGCGC,GCGCGCGC [Show Flanks]
Chromosome:: 7:101159984 (GRCh38)
7:100803265 (GRCh37)
Canonical SPDI:: NC_000007.14:101159981:GCGCGC:GC,NC_000007.14:101159981:GCGCGC:GCGC,NC_000007.14:101159981:GCGCGC:GCGCGCGC,NC_000007.14:101159981:GCGCGC:GCGCGCGCGC
Gene:: AP1S1 (Varview), MIR4653 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGC=0./0 (ALFA)
-=0.13014/76 (NorthernSweden)
-=0.15936/291 (Korea1K)
HGVS:: NC_000007.14:g.101159982GC[1], NC_000007.14:g.101159982GC[2], NC_000007.14:g.101159982GC[4], NC_000007.14:g.101159982GC[5], NC_000007.13:g.100803263GC[1], NC_000007.13:g.100803263GC[2], NC_000007.13:g.100803263GC[4], NC_000007.13:g.100803263GC[5], NG_033082.2:g.10585GC[1], NG_033082.2:g.10585GC[2], NG_033082.2:g.10585GC[4], NG_033082.2:g.10585GC[5]

Select item 14910777028.

rs1491077702 has merged into rs34078130 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:101161958 (GRCh38)
7:100805239 (GRCh37)
Canonical SPDI:: NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101161947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.101161958_101161968del, NC_000007.14:g.101161960_101161968del, NC_000007.14:g.101161961_101161968del, NC_000007.14:g.101161963_101161968del, NC_000007.14:g.101161964_101161968del, NC_000007.14:g.101161965_101161968del, NC_000007.14:g.101161966_101161968del, NC_000007.14:g.101161967_101161968del, NC_000007.14:g.101161968del, NC_000007.14:g.101161968dup, NC_000007.14:g.101161967_101161968dup, NC_000007.14:g.101161966_101161968dup, NC_000007.14:g.101161965_101161968dup, NC_000007.13:g.100805239_100805249del, NC_000007.13:g.100805241_100805249del, NC_000007.13:g.100805242_100805249del, NC_000007.13:g.100805244_100805249del, NC_000007.13:g.100805245_100805249del, NC_000007.13:g.100805246_100805249del, NC_000007.13:g.100805247_100805249del, NC_000007.13:g.100805248_100805249del, NC_000007.13:g.100805249del, NC_000007.13:g.100805249dup, NC_000007.13:g.100805248_100805249dup, NC_000007.13:g.100805247_100805249dup, NC_000007.13:g.100805246_100805249dup, NG_033082.2:g.12561_12571del, NG_033082.2:g.12563_12571del, NG_033082.2:g.12564_12571del, NG_033082.2:g.12566_12571del, NG_033082.2:g.12567_12571del, NG_033082.2:g.12568_12571del, NG_033082.2:g.12569_12571del, NG_033082.2:g.12570_12571del, NG_033082.2:g.12571del, NG_033082.2:g.12571dup, NG_033082.2:g.12570_12571dup, NG_033082.2:g.12569_12571dup, NG_033082.2:g.12568_12571dup

Select item 14907351259.

rs1490735125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:101162916 (GRCh38)
7:100806197 (GRCh37)
Canonical SPDI:: NC_000007.14:101162915:A:G
Gene:: VGF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00034/4 (ALFA)
G=0.00011/2 (TOMMO)
G=0.03322/96 (KOREAN)
HGVS:: NC_000007.14:g.101162916A>G, NC_000007.13:g.100806197A>G, NG_033082.2:g.13519A>G, XM_005250561.6:c.*80T>C, XM_005250561.5:c.*80T>C, XM_005250561.4:c.*80T>C, XM_005250561.3:c.*80T>C, XM_005250561.2:c.*80T>C, NM_003378.4:c.*80T>C, NM_003378.3:c.*80T>C, XM_011516549.4:c.*80T>C, XM_011516549.3:c.*80T>C, XM_011516549.2:c.*80T>C, XM_011516549.1:c.*80T>C

Select item 149056988810.

rs1490569888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101162406 (GRCh38)
7:100805687 (GRCh37)
Canonical SPDI:: NC_000007.14:101162405:C:T
Gene:: VGF (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.101162406C>T, NC_000007.13:g.100805687C>T, NG_033082.2:g.13009C>T

Select item 149049598211.

rs1490495982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:101162139 (GRCh38)
7:100805420 (GRCh37)
Canonical SPDI:: NC_000007.14:101162138:A:T
Gene:: VGF (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101162139A>T, NC_000007.13:g.100805420A>T, NG_033082.2:g.12742A>T

Select item 149016651212.

rs1490166512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:101160151 (GRCh38)
7:100803432 (GRCh37)
Canonical SPDI:: NC_000007.14:101160150:A:C,NC_000007.14:101160150:A:G
Gene:: AP1S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.101160151A>C, NC_000007.14:g.101160151A>G, NC_000007.13:g.100803432A>C, NC_000007.13:g.100803432A>G, NG_033082.2:g.10754A>C, NG_033082.2:g.10754A>G

Select item 148992205013.

rs1489922050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:101156262 (GRCh38)
7:100799543 (GRCh37)
Canonical SPDI:: NC_000007.14:101156261:A:T
Gene:: AP1S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.101156262A>T, NC_000007.13:g.100799543A>T, NG_033082.2:g.6865A>T

Select item 148989464714.

rs1489894647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:101159351 (GRCh38)
7:100802632 (GRCh37)
Canonical SPDI:: NC_000007.14:101159350:C:A,NC_000007.14:101159350:C:G
Gene:: AP1S1 (Varview), MIR4653 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101159351C>A, NC_000007.14:g.101159351C>G, NC_000007.13:g.100802632C>A, NC_000007.13:g.100802632C>G, NG_033082.2:g.9954C>A, NG_033082.2:g.9954C>G

Select item 148982350815.

rs1489823508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101157313 (GRCh38)
7:100800594 (GRCh37)
Canonical SPDI:: NC_000007.14:101157312:G:A
Gene:: AP1S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000007.14:g.101157313G>A, NC_000007.13:g.100800594G>A, NG_033082.2:g.7916G>A

Select item 148955523216.

rs1489555232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:101154545 (GRCh38)
7:100797826 (GRCh37)
Canonical SPDI:: NC_000007.14:101154544:G:A,NC_000007.14:101154544:G:C
Gene:: AP1S1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.101154545G>A, NC_000007.14:g.101154545G>C, NC_000007.13:g.100797826G>A, NC_000007.13:g.100797826G>C, NG_033082.2:g.5148G>A, NG_033082.2:g.5148G>C, NG_062458.1:g.378G>A, NG_062458.1:g.378G>C

Select item 148954789017.

rs1489547890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:101158911 (GRCh38)
7:100802192 (GRCh37)
Canonical SPDI:: NC_000007.14:101158910:A:C
Gene:: AP1S1 (Varview), MIR4653 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.101158911A>C, NC_000007.13:g.100802192A>C, NG_033082.2:g.9514A>C

Select item 148950509018.

rs1489505090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:101161684 (GRCh38)
7:100804965 (GRCh37)
Canonical SPDI:: NC_000007.14:101161683:T:G
Gene:: AP1S1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.101161684T>G, NC_000007.13:g.100804965T>G, NG_033082.2:g.12287T>G

Select item 148942776219.

rs1489427762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:101160988 (GRCh38)
7:100804269 (GRCh37)
Canonical SPDI:: NC_000007.14:101160987:C:A,NC_000007.14:101160987:C:T
Gene:: AP1S1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101160988C>A, NC_000007.14:g.101160988C>T, NC_000007.13:g.100804269C>A, NC_000007.13:g.100804269C>T, NG_033082.2:g.11591C>A, NG_033082.2:g.11591C>T, NM_001283.5:c.*422C>A, NM_001283.5:c.*422C>T, NM_001283.4:c.*422C>A, NM_001283.4:c.*422C>T, NM_001283.3:c.*422C>A, NM_001283.3:c.*422C>T, NM_057089.2:c.*220C>A, NM_057089.2:c.*220C>T, NM_057089.1:c.*220C>A, NM_057089.1:c.*220C>T

Select item 148917713920.

rs1489177139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:101150989 (GRCh38)
7:100794270 (GRCh37)
Canonical SPDI:: NC_000007.14:101150988:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101150989C>A, NC_000007.13:g.100794270C>A, NG_033082.2:g.1592C>A

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