SNP Links for Nucleotide (Select 1103360289) - SNP

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Select item 14912234621.

rs1491223462 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:80997058 (GRCh38)
15:81289399 (GRCh37)
Canonical SPDI:: NC_000015.10:80997057:CA:
Gene:: MIR4514 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
HGVS:: NC_000015.10:g.80997058_80997059del, NC_000015.9:g.81289399_81289400del, NG_052069.1:g.1105_1106del

Select item 14910353252.

rs1491035325 has merged into rs61128042 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:80999051 (GRCh38)
15:81291392 (GRCh37)
Canonical SPDI:: NC_000015.10:80999045:TTTTTTTTT:TTTTT,NC_000015.10:80999045:TTTTTTTTT:TTTTTTT,NC_000015.10:80999045:TTTTTTTTT:TTTTTTTT,NC_000015.10:80999045:TTTTTTTTT:TTTTTTTTTT,NC_000015.10:80999045:TTTTTTTTT:TTTTTTTTTTT,NC_000015.10:80999045:TTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:80999045:TTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:80999045:TTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:80999045:TTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: TLNRD1 (Varview), MIR4514 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
TT=0.13818/692 (1000Genomes)
TT=0.25/2 (KOREAN)
HGVS:: NC_000015.10:g.80999051_80999054del, NC_000015.10:g.80999053_80999054del, NC_000015.10:g.80999054del, NC_000015.10:g.80999054dup, NC_000015.10:g.80999053_80999054dup, NC_000015.10:g.80999052_80999054dup, NC_000015.10:g.80999051_80999054dup, NC_000015.10:g.80999049_80999054dup, NC_000015.10:g.80999054_80999055insTTTTTTTTTT, NC_000015.9:g.81291392_81291395del, NC_000015.9:g.81291394_81291395del, NC_000015.9:g.81291395del, NC_000015.9:g.81291395dup, NC_000015.9:g.81291394_81291395dup, NC_000015.9:g.81291393_81291395dup, NC_000015.9:g.81291392_81291395dup, NC_000015.9:g.81291390_81291395dup, NC_000015.9:g.81291395_81291396insTTTTTTTTTT, NG_052069.1:g.3098_3101del, NG_052069.1:g.3100_3101del, NG_052069.1:g.3101del, NG_052069.1:g.3101dup, NG_052069.1:g.3100_3101dup, NG_052069.1:g.3099_3101dup, NG_052069.1:g.3098_3101dup, NG_052069.1:g.3096_3101dup, NG_052069.1:g.3101_3102insTTTTTTTTTT

Select item 14907573943.

rs1490757394 has merged into rs923983228 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAAAAA [Show Flanks]
Chromosome:: 15:80998953 (GRCh38)
15:81291294 (GRCh37)
Canonical SPDI:: NC_000015.10:80998952:AAAAAAAA:AAAAAAA,NC_000015.10:80998952:AAAAAAAA:AAAAAAAAA,NC_000015.10:80998952:AAAAAAAA:AAAAAAAAAAAAA
Gene:: TLNRD1 (Varview), MIR4514 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00488/82 (TOMMO)
-=0.00764/14 (Korea1K)
HGVS:: NC_000015.10:g.80998960del, NC_000015.10:g.80998960dup, NC_000015.10:g.80998956_80998960dup, NC_000015.9:g.81291301del, NC_000015.9:g.81291301dup, NC_000015.9:g.81291297_81291301dup, NG_052069.1:g.3007del, NG_052069.1:g.3007dup, NG_052069.1:g.3003_3007dup

Select item 14906911114.

rs1490691111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:81005907 (GRCh38)
15:81298249 (GRCh37)
Canonical SPDI:: NC_000015.10:81005907:AA:AAA
Gene:: TLNRD1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000015.10:g.81005909dup, NC_000015.9:g.81298250dup, NG_052069.1:g.9956dup

Select item 14906222235.

rs1490622223 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 15:80997334 (GRCh38)
15:81289675 (GRCh37)
Canonical SPDI:: NC_000015.10:80997330:TATTAT:TAT
Gene:: MIR4514 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.80997331TAT[1], NC_000015.9:g.81289672TAT[1], NG_052069.1:g.1378TAT[1]

Select item 14902498576.

rs1490249857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:80999129 (GRCh38)
15:81291470 (GRCh37)
Canonical SPDI:: NC_000015.10:80999128:C:G,NC_000015.10:80999128:C:T
Gene:: TLNRD1 (Varview), MIR4514 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.80999129C>G, NC_000015.10:g.80999129C>T, NC_000015.9:g.81291470C>G, NC_000015.9:g.81291470C>T, NG_052069.1:g.3176C>G, NG_052069.1:g.3176C>T

Select item 14898158107.

rs1489815810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:81004600 (GRCh38)
15:81296941 (GRCh37)
Canonical SPDI:: NC_000015.10:81004599:G:C
Gene:: TLNRD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.81004600G>C, NC_000015.9:g.81296941G>C, NG_052069.1:g.8647G>C, NM_022566.3:c.*1240G>C

Select item 14895958738.

rs1489595873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:81002692 (GRCh38)
15:81295033 (GRCh37)
Canonical SPDI:: NC_000015.10:81002691:C:G
Gene:: TLNRD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.81002692C>G, NC_000015.9:g.81295033C>G, NG_052069.1:g.6739C>G, NM_022566.3:c.421C>G, NM_022566.2:c.421C>G, NP_072088.1:p.Gln141Glu

Select item 14894335429.

rs1489433542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:80997350 (GRCh38)
15:81289691 (GRCh37)
Canonical SPDI:: NC_000015.10:80997349:G:A
Gene:: MIR4514 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000015.10:g.80997350G>A, NC_000015.9:g.81289691G>A, NG_052069.1:g.1397G>A

Select item 148936793110.

rs1489367931 [Homo sapiens]

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

Select item 148935504811.

rs1489355048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:81003211 (GRCh38)
15:81295552 (GRCh37)
Canonical SPDI:: NC_000015.10:81003210:G:A,NC_000015.10:81003210:G:C
Gene:: TLNRD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.81003211G>A, NC_000015.10:g.81003211G>C, NC_000015.9:g.81295552G>A, NC_000015.9:g.81295552G>C, NG_052069.1:g.7258G>A, NG_052069.1:g.7258G>C, NM_022566.3:c.940G>A, NM_022566.3:c.940G>C, NM_022566.2:c.940G>A, NM_022566.2:c.940G>C, NP_072088.1:p.Asp314Asn, NP_072088.1:p.Asp314His

Select item 148911764112.

rs1489117641 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 15:80996472 (GRCh38)
15:81288813 (GRCh37)
Canonical SPDI:: NC_000015.10:80996471:T:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000015.10:g.80996472del, NC_000015.9:g.81288813del, NG_052069.1:g.519del

Select item 148885323413.

rs1488853234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:81002765 (GRCh38)
15:81295106 (GRCh37)
Canonical SPDI:: NC_000015.10:81002764:C:T
Gene:: TLNRD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.81002765C>T, NC_000015.9:g.81295106C>T, NG_052069.1:g.6812C>T, NM_022566.3:c.494C>T, NM_022566.2:c.494C>T, NP_072088.1:p.Ala165Val

Select item 148874612914.

rs1488746129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:81000173 (GRCh38)
15:81292514 (GRCh37)
Canonical SPDI:: NC_000015.10:81000172:G:A
Gene:: TLNRD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.81000173G>A, NC_000015.9:g.81292514G>A, NG_052069.1:g.4220G>A

Select item 148862098915.

rs1488620989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:81001956 (GRCh38)
15:81294297 (GRCh37)
Canonical SPDI:: NC_000015.10:81001955:A:T
Gene:: TLNRD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.81001956A>T, NC_000015.9:g.81294297A>T, NG_052069.1:g.6003A>T, NM_022566.3:c.-316A>T, NM_022566.2:c.-316A>T

Select item 148859701816.

rs1488597018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:81002950 (GRCh38)
15:81295291 (GRCh37)
Canonical SPDI:: NC_000015.10:81002949:G:A
Gene:: TLNRD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.81002950G>A, NC_000015.9:g.81295291G>A, NG_052069.1:g.6997G>A, NM_022566.3:c.679G>A, NM_022566.2:c.679G>A, NP_072088.1:p.Ala227Thr

Select item 148857569617.

rs1488575696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:81002674 (GRCh38)
15:81295015 (GRCh37)
Canonical SPDI:: NC_000015.10:81002673:G:A
Gene:: TLNRD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.81002674G>A, NC_000015.9:g.81295015G>A, NG_052069.1:g.6721G>A, NM_022566.3:c.403G>A, NM_022566.2:c.403G>A, NP_072088.1:p.Val135Met

Select item 148849416818.

rs1488494168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:81000636 (GRCh38)
15:81292977 (GRCh37)
Canonical SPDI:: NC_000015.10:81000635:C:A
Gene:: TLNRD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000015.10:g.81000636C>A, NC_000015.9:g.81292977C>A, NG_052069.1:g.4683C>A

Select item 148805729719.

rs1488057297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:80996989 (GRCh38)
15:81289330 (GRCh37)
Canonical SPDI:: NC_000015.10:80996988:G:A,NC_000015.10:80996988:G:C
Gene:: MIR4514 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.80996989G>A, NC_000015.10:g.80996989G>C, NC_000015.9:g.81289330G>A, NC_000015.9:g.81289330G>C, NG_052069.1:g.1036G>A, NG_052069.1:g.1036G>C

Select item 148779697020.

rs1487796970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:81000450 (GRCh38)
15:81292791 (GRCh37)
Canonical SPDI:: NC_000015.10:81000449:G:A
Gene:: TLNRD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.81000450G>A, NC_000015.9:g.81292791G>A, NG_052069.1:g.4497G>A

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