SNP Links for Gene (Select 121441) - SNP

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Select item 14915283061.

rs1491528306 has merged into rs1344638541 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 12:96923788 (GRCh38)
12:97317566 (GRCh37)
Canonical SPDI:: NC_000012.12:96923786:TTT:T,NC_000012.12:96923786:TTT:TTTTT
Gene:: NEDD1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
-=0.000103/11 (GnomAD)
HGVS:: NC_000012.12:g.96923788_96923789del, NC_000012.12:g.96923788_96923789dup, NC_000012.11:g.97317566_97317567del, NC_000012.11:g.97317566_97317567dup

Select item 14914311262.

rs1491431126 has merged into rs747225218 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:96932452 (GRCh38)
12:97326230 (GRCh37)
Canonical SPDI:: NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:96932442:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAA=0.225/9 (GENOME_DK)
HGVS:: NC_000012.12:g.96932452_96932464del, NC_000012.12:g.96932454_96932464del, NC_000012.12:g.96932455_96932464del, NC_000012.12:g.96932456_96932464del, NC_000012.12:g.96932457_96932464del, NC_000012.12:g.96932458_96932464del, NC_000012.12:g.96932459_96932464del, NC_000012.12:g.96932460_96932464del, NC_000012.12:g.96932461_96932464del, NC_000012.12:g.96932462_96932464del, NC_000012.12:g.96932463_96932464del, NC_000012.12:g.96932464del, NC_000012.12:g.96932464dup, NC_000012.12:g.96932463_96932464dup, NC_000012.12:g.96932462_96932464dup, NC_000012.12:g.96932461_96932464dup, NC_000012.12:g.96932460_96932464dup, NC_000012.12:g.96932459_96932464dup, NC_000012.12:g.96932458_96932464dup, NC_000012.12:g.96932457_96932464dup, NC_000012.12:g.96932456_96932464dup, NC_000012.12:g.96932455_96932464dup, NC_000012.12:g.96932454_96932464dup, NC_000012.12:g.96932453_96932464dup, NC_000012.12:g.96932452_96932464dup, NC_000012.12:g.96932449_96932464dup, NC_000012.12:g.96932448_96932464dup, NC_000012.12:g.96932447_96932464dup, NC_000012.12:g.96932444_96932464dup, NC_000012.11:g.97326230_97326242del, NC_000012.11:g.97326232_97326242del, NC_000012.11:g.97326233_97326242del, NC_000012.11:g.97326234_97326242del, NC_000012.11:g.97326235_97326242del, NC_000012.11:g.97326236_97326242del, NC_000012.11:g.97326237_97326242del, NC_000012.11:g.97326238_97326242del, NC_000012.11:g.97326239_97326242del, NC_000012.11:g.97326240_97326242del, NC_000012.11:g.97326241_97326242del, NC_000012.11:g.97326242del, NC_000012.11:g.97326242dup, NC_000012.11:g.97326241_97326242dup, NC_000012.11:g.97326240_97326242dup, NC_000012.11:g.97326239_97326242dup, NC_000012.11:g.97326238_97326242dup, NC_000012.11:g.97326237_97326242dup, NC_000012.11:g.97326236_97326242dup, NC_000012.11:g.97326235_97326242dup, NC_000012.11:g.97326234_97326242dup, NC_000012.11:g.97326233_97326242dup, NC_000012.11:g.97326232_97326242dup, NC_000012.11:g.97326231_97326242dup, NC_000012.11:g.97326230_97326242dup, NC_000012.11:g.97326227_97326242dup, NC_000012.11:g.97326226_97326242dup, NC_000012.11:g.97326225_97326242dup, NC_000012.11:g.97326222_97326242dup

Select item 14912777163.

rs1491277716 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:96917614 (GRCh38)
12:97311392 (GRCh37)
Canonical SPDI:: NC_000012.12:96917613:TA:
Gene:: NEDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.96917614_96917615del, NC_000012.11:g.97311392_97311393del

Select item 14912454554.

rs1491245455 has merged into rs1555202701 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 12:96929630 (GRCh38)
12:97323408 (GRCh37)
Canonical SPDI:: NC_000012.12:96929623:TTTTTTTTTT:TTTTTT,NC_000012.12:96929623:TTTTTTTTTT:TTTTTTT,NC_000012.12:96929623:TTTTTTTTTT:TTTTTTTT,NC_000012.12:96929623:TTTTTTTTTT:TTTTTTTTT,NC_000012.12:96929623:TTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:96929623:TTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:96929623:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:96929623:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:96929623:TTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
TT=0.01825/77 (Estonian)
TT=0.02667/16 (NorthernSweden)
HGVS:: NC_000012.12:g.96929630_96929633del, NC_000012.12:g.96929631_96929633del, NC_000012.12:g.96929632_96929633del, NC_000012.12:g.96929633del, NC_000012.12:g.96929633dup, NC_000012.12:g.96929632_96929633dup, NC_000012.12:g.96929631_96929633dup, NC_000012.12:g.96929630_96929633dup, NC_000012.12:g.96929629_96929633dup, NC_000012.11:g.97323408_97323411del, NC_000012.11:g.97323409_97323411del, NC_000012.11:g.97323410_97323411del, NC_000012.11:g.97323411del, NC_000012.11:g.97323411dup, NC_000012.11:g.97323410_97323411dup, NC_000012.11:g.97323409_97323411dup, NC_000012.11:g.97323408_97323411dup, NC_000012.11:g.97323407_97323411dup

Select item 14912272425.

rs1491227242 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA,CACACACACA [Show Flanks]
Chromosome:: 12:96929554 (GRCh38)
12:97323333 (GRCh37)
Canonical SPDI:: NC_000012.12:96929554:A:ACA,NC_000012.12:96929554:A:ACACA,NC_000012.12:96929554:A:ACACACA,NC_000012.12:96929554:A:ACACACACACA
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
AC=0.00011/2 (TOMMO)
HGVS:: NC_000012.12:g.96929555_96929556insCA, NC_000012.12:g.96929555_96929556insCACA, NC_000012.12:g.96929556CA[3], NC_000012.12:g.96929556CA[5], NC_000012.11:g.97323333_97323334insCA, NC_000012.11:g.97323333_97323334insCACA, NC_000012.11:g.97323334CA[3], NC_000012.11:g.97323334CA[5]

Select item 14911825976.

rs1491182597 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:96922313 (GRCh38)
12:97316091 (GRCh37)
Canonical SPDI:: NC_000012.12:96922307:AGAGAGA:AGAGA
Gene:: NEDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000019/2 (GnomAD)
-=0.000035/0 (TOMMO)
-=0.000778/3 (ALSPAC)
-=0.000809/3 (TWINSUK)
HGVS:: NC_000012.12:g.96922309GA[2], NC_000012.11:g.97316087GA[2]

Select item 14911215517.

rs1491121551 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:96932443 (GRCh38)
12:97326222 (GRCh37)
Canonical SPDI:: NC_000012.12:96932443::C
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00024/3 (GnomAD)
HGVS:: NC_000012.12:g.96932443_96932444insC, NC_000012.11:g.97326221_97326222insC

Select item 14910936238.

rs1491093623 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:96929556 (GRCh38)
12:97323334 (GRCh37)
Canonical SPDI:: NC_000012.12:96929553:TATA:TA
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATA=0.000066/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.96929554TA[1], NC_000012.11:g.97323332TA[1]

Select item 14910578629.

rs1491057862 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT [Show Flanks]
Chromosome:: 12:96927008 (GRCh38)
12:97320787 (GRCh37)
Canonical SPDI:: NC_000012.12:96927008:T:TGTAT
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTAT=0./0 (ALFA)
TGTA=0.000008/1 (GnomAD)
HGVS:: NC_000012.12:g.96927009_96927010insGTAT, NC_000012.11:g.97320787_97320788insGTAT

Select item 149105365110.

rs1491053651 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:96933016 (GRCh38)
12:97326794 (GRCh37)
Canonical SPDI:: NC_000012.12:96933015:TA:
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00007/1 (ALFA)
HGVS:: NC_000012.12:g.96933016_96933017del, NC_000012.11:g.97326794_97326795del

Select item 149093277311.

rs1490932773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:96923483 (GRCh38)
12:97317261 (GRCh37)
Canonical SPDI:: NC_000012.12:96923482:G:A
Gene:: NEDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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_000012.12:g.96923483G>A, NC_000012.11:g.97317261G>A

Select item 149092394912.

rs1490923949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:96946402 (GRCh38)
12:97340180 (GRCh37)
Canonical SPDI:: NC_000012.12:96946401:C:T
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.96946402C>T, NC_000012.11:g.97340180C>T

Select item 149088208313.

rs1490882083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:96922471 (GRCh38)
12:97316249 (GRCh37)
Canonical SPDI:: NC_000012.12:96922470:A:G
Gene:: NEDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.96922471A>G, NC_000012.11:g.97316249A>G

Select item 149084757114.

rs1490847571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:96907241 (GRCh38)
12:97301019 (GRCh37)
Canonical SPDI:: NC_000012.12:96907240:C:G,NC_000012.12:96907240:C:T
Gene:: NEDD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00167/1 (NorthernSweden)
HGVS:: NC_000012.12:g.96907241C>G, NC_000012.12:g.96907241C>T, NC_000012.11:g.97301019C>G, NC_000012.11:g.97301019C>T, NM_152905.3:c.-321C>G, NM_152905.3:c.-321C>T, NM_001135177.1:c.-349C>G, NM_001135177.1:c.-349C>T, NM_001135176.1:c.-68C>G, NM_001135176.1:c.-68C>T

Select item 149074240415.

rs1490742404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:96930186 (GRCh38)
12:97323964 (GRCh37)
Canonical SPDI:: NC_000012.12:96930185:C:A,NC_000012.12:96930185:C:T
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00004/5 (GnomAD)
HGVS:: NC_000012.12:g.96930186C>A, NC_000012.12:g.96930186C>T, NC_000012.11:g.97323964C>A, NC_000012.11:g.97323964C>T

Select item 149071376616.

rs1490713766 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 12:96929603 (GRCh38)
12:97323381 (GRCh37)
Canonical SPDI:: NC_000012.12:96929600:ATAT:AT,NC_000012.12:96929600:ATAT:ATATAT
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.96929601AT[1], NC_000012.12:g.96929601AT[3], NC_000012.11:g.97323379AT[1], NC_000012.11:g.97323379AT[3]

Select item 149068719017.

rs1490687190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:96929671 (GRCh38)
12:97323449 (GRCh37)
Canonical SPDI:: NC_000012.12:96929670:C:T
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.96929671C>T, NC_000012.11:g.97323449C>T

Select item 149061977718.

rs1490619777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:96944602 (GRCh38)
12:97338380 (GRCh37)
Canonical SPDI:: NC_000012.12:96944601:T:C
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_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_000012.12:g.96944602T>C, NC_000012.11:g.97338380T>C

Select item 149061475619.

rs1490614756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:96945641 (GRCh38)
12:97339419 (GRCh37)
Canonical SPDI:: NC_000012.12:96945640:A:G
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.96945641A>G, NC_000012.11:g.97339419A>G

Select item 149057785520.

rs1490577855 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC,TCTC,TCTCTC [Show Flanks]
Chromosome:: 12:96930209 (GRCh38)
12:97323988 (GRCh37)
Canonical SPDI:: NC_000012.12:96930209:C:CTC,NC_000012.12:96930209:C:CTCTC,NC_000012.12:96930209:C:CTCTCTC
Gene:: NEDD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTC=0./0 (ALFA)
HGVS:: NC_000012.12:g.96930210_96930211insTC, NC_000012.12:g.96930210_96930211insTCTC, NC_000012.12:g.96930211TC[3], NC_000012.11:g.97323988_97323989insTC, NC_000012.11:g.97323988_97323989insTCTC, NC_000012.11:g.97323989TC[3]

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