SNP Links for Nucleotide (Select 340139643) - SNP

Links from Nucleotide

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Select item 14915171821.

rs1491517182 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:122209667 (GRCh38)
12:122694214 (GRCh37)
Canonical SPDI:: NC_000012.12:122209666:CA:
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.122209667_122209668del, NC_000012.11:g.122694214_122694215del, NG_029459.1:g.22854_22855del

Select item 14914869552.

rs1491486955 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:122209367 (GRCh38)
12:122693914 (GRCh37)
Canonical SPDI:: NC_000012.12:122209365:AGA:A
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000058/8 (GnomAD)
HGVS:: NC_000012.12:g.122209367_122209368del, NC_000012.11:g.122693914_122693915del, NG_029459.1:g.23155_23156del

Select item 14913425043.

rs1491342504 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:122223426 (GRCh38)
12:122707973 (GRCh37)
Canonical SPDI:: NC_000012.12:122223423:CTCT:CT
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0.000122/2 (ALFA)
-=0.000037/5 (GnomAD)
HGVS:: NC_000012.12:g.122223424CT[1], NC_000012.11:g.122707971CT[1], NG_029459.1:g.9095AG[1]

Select item 14912074844.

rs1491207484 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:122222591 (GRCh38)
12:122707138 (GRCh37)
Canonical SPDI:: NC_000012.12:122222590:AT:
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.122222591_122222592del, NC_000012.11:g.122707138_122707139del, NG_029459.1:g.9930_9931del

Select item 14911470155.

rs1491147015 has merged into rs60645708 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:122215894 (GRCh38)
12:122700441 (GRCh37)
Canonical SPDI:: NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122215883:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.2266/92 (NorthernSweden)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000012.12:g.122215894_122215905del, NC_000012.12:g.122215895_122215905del, NC_000012.12:g.122215896_122215905del, NC_000012.12:g.122215897_122215905del, NC_000012.12:g.122215898_122215905del, NC_000012.12:g.122215899_122215905del, NC_000012.12:g.122215900_122215905del, NC_000012.12:g.122215901_122215905del, NC_000012.12:g.122215902_122215905del, NC_000012.12:g.122215903_122215905del, NC_000012.12:g.122215904_122215905del, NC_000012.12:g.122215905del, NC_000012.12:g.122215905dup, NC_000012.12:g.122215904_122215905dup, NC_000012.12:g.122215903_122215905dup, NC_000012.12:g.122215902_122215905dup, NC_000012.12:g.122215901_122215905dup, NC_000012.11:g.122700441_122700452del, NC_000012.11:g.122700442_122700452del, NC_000012.11:g.122700443_122700452del, NC_000012.11:g.122700444_122700452del, NC_000012.11:g.122700445_122700452del, NC_000012.11:g.122700446_122700452del, NC_000012.11:g.122700447_122700452del, NC_000012.11:g.122700448_122700452del, NC_000012.11:g.122700449_122700452del, NC_000012.11:g.122700450_122700452del, NC_000012.11:g.122700451_122700452del, NC_000012.11:g.122700452del, NC_000012.11:g.122700452dup, NC_000012.11:g.122700451_122700452dup, NC_000012.11:g.122700450_122700452dup, NC_000012.11:g.122700449_122700452dup, NC_000012.11:g.122700448_122700452dup, NG_029459.1:g.16627_16638del, NG_029459.1:g.16628_16638del, NG_029459.1:g.16629_16638del, NG_029459.1:g.16630_16638del, NG_029459.1:g.16631_16638del, NG_029459.1:g.16632_16638del, NG_029459.1:g.16633_16638del, NG_029459.1:g.16634_16638del, NG_029459.1:g.16635_16638del, NG_029459.1:g.16636_16638del, NG_029459.1:g.16637_16638del, NG_029459.1:g.16638del, NG_029459.1:g.16638dup, NG_029459.1:g.16637_16638dup, NG_029459.1:g.16636_16638dup, NG_029459.1:g.16635_16638dup, NG_029459.1:g.16634_16638dup

Select item 14911241026.

rs1491124102 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:122216454 (GRCh38)
12:122701001 (GRCh37)
Canonical SPDI:: NC_000012.12:122216453:TA:
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0003/1 (TWINSUK)
-=0.0005/2 (ALSPAC)
HGVS:: NC_000012.12:g.122216454_122216455del, NC_000012.11:g.122701001_122701002del, NG_029459.1:g.16067_16068del

Select item 14910743817.

rs1491074381 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:122207422 (GRCh38)
12:122691969 (GRCh37)
Canonical SPDI:: NC_000012.12:122207421:CA:
Gene:: DIABLO (Varview), B3GNT4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122207422_122207423del, NC_000012.11:g.122691969_122691970del, NG_029459.1:g.25099_25100del, NM_030765.4:c.*34_*35del, NM_030765.3:c.*34_*35del, NM_030765.2:c.*34_*35del, NM_001330492.2:c.*34_*35del, NM_001330492.1:c.*34_*35del, XM_047429535.1:c.*34_*35del

Select item 14909709128.

rs1490970912 has merged into rs1443729045 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAAACAAAA>-,CAAAA,CAAAACAAAACAAAA [Show Flanks]
Chromosome:: 12:122230598 (GRCh38)
12:122715145 (GRCh37)
Canonical SPDI:: NC_000012.12:122230588:AAAACAAAACAAAACAAAA:AAAACAAAA,NC_000012.12:122230588:AAAACAAAACAAAACAAAA:AAAACAAAACAAAA,NC_000012.12:122230588:AAAACAAAACAAAACAAAA:AAAACAAAACAAAACAAAACAAAA
Gene:: VPS33A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAACAAAACAAAACAAAACAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.122230593CAAAA[1], NC_000012.12:g.122230593CAAAA[2], NC_000012.12:g.122230593CAAAA[4], NC_000012.11:g.122715140CAAAA[1], NC_000012.11:g.122715140CAAAA[2], NC_000012.11:g.122715140CAAAA[4], NG_054909.1:g.40919GTTTT[1], NG_054909.1:g.40919GTTTT[2], NG_054909.1:g.40919GTTTT[4], NM_022916.6:c.*1643GTTTT[1], NM_022916.6:c.*1643GTTTT[2], NM_022916.6:c.*1643GTTTT[4], NM_022916.5:c.*1643GTTTT[1], NM_022916.5:c.*1643GTTTT[2], NM_022916.5:c.*1643GTTTT[4], NM_001351019.2:c.*1643GTTTT[1], NM_001351019.2:c.*1643GTTTT[2], NM_001351019.2:c.*1643GTTTT[4], NM_001351019.1:c.*1643GTTTT[1], NM_001351019.1:c.*1643GTTTT[2], NM_001351019.1:c.*1643GTTTT[4], NM_001351018.2:c.*1643GTTTT[1], NM_001351018.2:c.*1643GTTTT[2], NM_001351018.2:c.*1643GTTTT[4], NM_001351018.1:c.*1643GTTTT[1], NM_001351018.1:c.*1643GTTTT[2], NM_001351018.1:c.*1643GTTTT[4], NM_001351020.2:c.*1643GTTTT[1], NM_001351020.2:c.*1643GTTTT[2], NM_001351020.2:c.*1643GTTTT[4], NM_001351020.1:c.*1643GTTTT[1], NM_001351020.1:c.*1643GTTTT[2], NM_001351020.1:c.*1643GTTTT[4], NG_029459.1:g.1919GTTTT[1], NG_029459.1:g.1919GTTTT[2], NG_029459.1:g.1919GTTTT[4]

Select item 14909069539.

rs1490906953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:122215404 (GRCh38)
12:122699951 (GRCh37)
Canonical SPDI:: NC_000012.12:122215403:C:A
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.122215404C>A, NC_000012.11:g.122699951C>A, NG_029459.1:g.17118G>T

Select item 149085396910.

rs1490853969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:122216467 (GRCh38)
12:122701014 (GRCh37)
Canonical SPDI:: NC_000012.12:122216466:C:G,NC_000012.12:122216466:C:T
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.122216467C>G, NC_000012.12:g.122216467C>T, NC_000012.11:g.122701014C>G, NC_000012.11:g.122701014C>T, NG_029459.1:g.16055G>C, NG_029459.1:g.16055G>A

Select item 149063216711.

rs1490632167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122224508 (GRCh38)
12:122709055 (GRCh37)
Canonical SPDI:: NC_000012.12:122224507:G:A
Gene:: DIABLO (Varview), LOC101593348 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122224508G>A, NC_000012.11:g.122709055G>A, NG_029459.1:g.8014C>T

Select item 149060623412.

rs1490606234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122215030 (GRCh38)
12:122699577 (GRCh37)
Canonical SPDI:: NC_000012.12:122215029:A:G
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.122215030A>G, NC_000012.11:g.122699577A>G, NG_029459.1:g.17492T>C

Select item 149056329813.

rs1490563298 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATC [Show Flanks]
Chromosome:: 12:122223038 (GRCh38)
12:122707586 (GRCh37)
Canonical SPDI:: NC_000012.12:122223038:TATC:TATCTATC
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATCTATC=0./0 (ALFA)
TATC=0.000019/5 (TOPMED)
TATC=0.000029/4 (GnomAD)
TATC=0.009346/2 (Vietnamese)
HGVS:: NC_000012.12:g.122223039_122223042dup, NC_000012.11:g.122707586_122707589dup, NG_029459.1:g.9480_9483dup

Select item 149043109414.

rs1490431094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:122217040 (GRCh38)
12:122701587 (GRCh37)
Canonical SPDI:: NC_000012.12:122217039:T:C
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000671/3 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000012.12:g.122217040T>C, NC_000012.11:g.122701587T>C, NG_029459.1:g.15482A>G

Select item 149041553615.

rs1490415536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122215728 (GRCh38)
12:122700275 (GRCh37)
Canonical SPDI:: NC_000012.12:122215727:G:A
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.122215728G>A, NC_000012.11:g.122700275G>A, NG_029459.1:g.16794C>T

Select item 149033953516.

rs1490339535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122210226 (GRCh38)
12:122694773 (GRCh37)
Canonical SPDI:: NC_000012.12:122210225:G:A
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.122210226G>A, NC_000012.11:g.122694773G>A, NG_029459.1:g.22296C>T

Select item 149019345717.

rs1490193457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122229755 (GRCh38)
12:122714302 (GRCh37)
Canonical SPDI:: NC_000012.12:122229754:G:A
Gene:: VPS33A (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_000012.12:g.122229755G>A, NC_000012.11:g.122714302G>A, NG_054909.1:g.41767C>T, NM_022916.6:c.*2491C>T, NM_022916.5:c.*2491C>T, NM_001351019.2:c.*2491C>T, NM_001351019.1:c.*2491C>T, NM_001351018.2:c.*2491C>T, NM_001351018.1:c.*2491C>T, NM_001351020.2:c.*2491C>T, NM_001351020.1:c.*2491C>T, NG_029459.1:g.2767C>T

Select item 149006600118.

rs1490066001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:122223419 (GRCh38)
12:122707966 (GRCh37)
Canonical SPDI:: NC_000012.12:122223418:T:A,NC_000012.12:122223418:T:C
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000022/3 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.122223419T>A, NC_000012.12:g.122223419T>C, NC_000012.11:g.122707966T>A, NC_000012.11:g.122707966T>C, NG_029459.1:g.9103A>T, NG_029459.1:g.9103A>G

Select item 149003491319.

rs1490034913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:122216874 (GRCh38)
12:122701421 (GRCh37)
Canonical SPDI:: NC_000012.12:122216873:A:T
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122216874A>T, NC_000012.11:g.122701421A>T, NG_029459.1:g.15648T>A

Select item 149002125520.

rs1490021255 has merged into rs35010821 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 12:122217990 (GRCh38)
12:122702537 (GRCh37)
Canonical SPDI:: NC_000012.12:122217979:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:122217979:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:122217979:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:122217979:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:122217979:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:122217979:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:122217979:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:122217979:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: DIABLO (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.2651/158 (NorthernSweden)
-=0.3287/1267 (ALSPAC)
-=0.3328/1234 (TWINSUK)
-=0.35/14 (GENOME_DK)
A=0.4794/2401 (1000Genomes)
HGVS:: NC_000012.12:g.122217990_122217994del, NC_000012.12:g.122217991_122217994del, NC_000012.12:g.122217992_122217994del, NC_000012.12:g.122217993_122217994del, NC_000012.12:g.122217994del, NC_000012.12:g.122217994dup, NC_000012.12:g.122217993_122217994dup, NC_000012.12:g.122217992_122217994dup, NC_000012.11:g.122702537_122702541del, NC_000012.11:g.122702538_122702541del, NC_000012.11:g.122702539_122702541del, NC_000012.11:g.122702540_122702541del, NC_000012.11:g.122702541del, NC_000012.11:g.122702541dup, NC_000012.11:g.122702540_122702541dup, NC_000012.11:g.122702539_122702541dup, NG_029459.1:g.14538_14542del, NG_029459.1:g.14539_14542del, NG_029459.1:g.14540_14542del, NG_029459.1:g.14541_14542del, NG_029459.1:g.14542del, NG_029459.1:g.14542dup, NG_029459.1:g.14541_14542dup, NG_029459.1:g.14540_14542dup

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