SNP Links for Nucleotide (Select 237874176) - SNP

Links from Nucleotide

Items: 1 to 20 of 4948

<< First< Prev

Page of 248

Next >Last >>

Select item 14915100511.

rs1491510051 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAAT [Show Flanks]
Chromosome:: 8:124483074 (GRCh38)
8:125495316 (GRCh37)
Canonical SPDI:: NC_000008.11:124483074:AT:ATATAAT
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAAT=0./0 (ALFA)
ATATA=0.00056/4 (TOMMO)
ATATA=0.00351/2 (Korea1K)
HGVS:: NC_000008.11:g.124483075_124483076AT[2]AAT[1], NC_000008.10:g.125495316_125495317AT[2]AAT[1], NG_012158.1:g.13309_13310AT[2]AAT[1], NW_025791784.1:g.17664_17665AT[2]AAT[1]

Select item 14915011962.

rs1491501196 [Homo sapiens]

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

Select item 14913805153.

rs1491380515 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:124480404 (GRCh38)
8:125492645 (GRCh37)
Canonical SPDI:: NC_000008.11:124480403:TA:
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.124480404_124480405del, NC_000008.10:g.125492645_125492646del, NG_012158.1:g.10638_10639del, NW_025791784.1:g.14993_14994del

Select item 14913245454.

rs1491324545 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATATATAT [Show Flanks]
Chromosome:: 8:124483075 (GRCh38)
8:125495316 (GRCh37)
Canonical SPDI:: NC_000008.11:124483073:TAT:T,NC_000008.11:124483073:TAT:TATATATAT
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATAT=0./0 (ALFA)
HGVS:: NC_000008.11:g.124483075_124483076del, NC_000008.11:g.124483075AT[4], NC_000008.10:g.125495316_125495317del, NC_000008.10:g.125495316AT[4], NG_012158.1:g.13309_13310del, NG_012158.1:g.13309AT[4], NW_025791784.1:g.17664_17665del, NW_025791784.1:g.17664AT[4]

Select item 14911166555.

rs1491116655 has merged into rs368206010 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT [Show Flanks]
Chromosome:: 8:124483017 (GRCh38)
8:125495258 (GRCh37)
Canonical SPDI:: NC_000008.11:124483010:ATATATATATATAT:ATATAT,NC_000008.11:124483010:ATATATATATATAT:ATATATAT,NC_000008.11:124483010:ATATATATATATAT:ATATATATAT,NC_000008.11:124483010:ATATATATATATAT:ATATATATATAT,NC_000008.11:124483010:ATATATATATATAT:ATATATATATATATAT
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.00253/4 (Korea1K)
-=0.00449/73 (TOMMO)
HGVS:: NC_000008.11:g.124483011AT[3], NC_000008.11:g.124483011AT[4], NC_000008.11:g.124483011AT[5], NC_000008.11:g.124483011AT[6], NC_000008.11:g.124483011AT[8], NC_000008.10:g.125495252AT[3], NC_000008.10:g.125495252AT[4], NC_000008.10:g.125495252AT[5], NC_000008.10:g.125495252AT[6], NC_000008.10:g.125495252AT[8], NG_012158.1:g.13245AT[3], NG_012158.1:g.13245AT[4], NG_012158.1:g.13245AT[5], NG_012158.1:g.13245AT[6], NG_012158.1:g.13245AT[8], NW_025791784.1:g.17600AT[3], NW_025791784.1:g.17600AT[4], NW_025791784.1:g.17600AT[5], NW_025791784.1:g.17600AT[6], NW_025791784.1:g.17600AT[8]

Select item 14910771896.

rs1491077189 has merged into rs149097788 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 8:124471532 (GRCh38)
8:125483773 (GRCh37)
Canonical SPDI:: NC_000008.11:124471528:TGTGTGTGTGTGT:TGT,NC_000008.11:124471528:TGTGTGTGTGTGT:TGTGTGTGT,NC_000008.11:124471528:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000008.11:124471528:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000008.11:124471528:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: RNF139-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
-=0.000064/17 (TOPMED)
TG=0.219473/967 (Estonian)
TG=0.225/9 (GENOME_DK)
TG=0.244809/448 (Korea1K)
TG=0.273585/58 (Vietnamese)
HGVS:: NC_000008.11:g.124471530GT[1], NC_000008.11:g.124471530GT[4], NC_000008.11:g.124471530GT[5], NC_000008.11:g.124471530GT[7], NC_000008.11:g.124471530GT[8], NC_000008.10:g.125483771GT[1], NC_000008.10:g.125483771GT[4], NC_000008.10:g.125483771GT[5], NC_000008.10:g.125483771GT[7], NC_000008.10:g.125483771GT[8], NG_012158.1:g.1764GT[1], NG_012158.1:g.1764GT[4], NG_012158.1:g.1764GT[5], NG_012158.1:g.1764GT[7], NG_012158.1:g.1764GT[8], NW_025791784.1:g.6119GT[1], NW_025791784.1:g.6119GT[4], NW_025791784.1:g.6119GT[5], NW_025791784.1:g.6119GT[7], NW_025791784.1:g.6119GT[8]

Select item 14909991607.

rs1490999160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:124490307 (GRCh38)
8:125502548 (GRCh37)
Canonical SPDI:: NC_000008.11:124490306:C:G,NC_000008.11:124490306:C:T
Gene:: TATDN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.124490307C>G, NC_000008.11:g.124490307C>T, NC_000008.10:g.125502548C>G, NC_000008.10:g.125502548C>T, NG_012158.1:g.20541C>G, NG_012158.1:g.20541C>T, NW_025791784.1:g.25257C>G, NW_025791784.1:g.25257C>T

Select item 14907417758.

rs1490741775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:124475137 (GRCh38)
8:125487378 (GRCh37)
Canonical SPDI:: NC_000008.11:124475136:C:G,NC_000008.11:124475136:C:T
Gene:: RNF139 (Varview), RNF139-DT (Varview)
Functional Consequence:: stop_gained,missense_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.124475137C>G, NC_000008.11:g.124475137C>T, NC_000008.10:g.125487378C>G, NC_000008.10:g.125487378C>T, NG_012158.1:g.5371C>G, NG_012158.1:g.5371C>T, NM_007218.4:c.28C>G, NM_007218.4:c.28C>T, NM_007218.3:c.28C>G, NM_007218.3:c.28C>T, NW_025791784.1:g.9726C>G, NW_025791784.1:g.9726C>T, XM_047421310.1:c.-502C>G, XM_047421310.1:c.-502C>T, NP_009149.2:p.Gln10Glu, NP_009149.2:p.Gln10Ter

Select item 14905110109.

rs1490511010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:124477972 (GRCh38)
8:125490213 (GRCh37)
Canonical SPDI:: NC_000008.11:124477971:C:T
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.124477972C>T, NC_000008.10:g.125490213C>T, NG_012158.1:g.8206C>T, NW_025791784.1:g.12561C>T

Select item 149021800410.

rs1490218004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:124483060 (GRCh38)
8:125495301 (GRCh37)
Canonical SPDI:: NC_000008.11:124483059:A:T
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
T=0.00012/4 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.124483060A>T, NC_000008.10:g.125495301A>T, NG_012158.1:g.13294A>T, NW_025791784.1:g.17649A>T

Select item 149019719011.

rs1490197190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:124483050 (GRCh38)
8:125495291 (GRCh37)
Canonical SPDI:: NC_000008.11:124483049:T:C
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.124483050T>C, NC_000008.10:g.125495291T>C, NG_012158.1:g.13284T>C, NW_025791784.1:g.17639T>C

Select item 149002013712.

rs1490020137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:124476694 (GRCh38)
8:125488935 (GRCh37)
Canonical SPDI:: NC_000008.11:124476693:G:A
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.124476694G>A, NC_000008.10:g.125488935G>A, NG_012158.1:g.6928G>A, NW_025791784.1:g.11283G>A

Select item 148990997813.

rs1489909978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:124489748 (GRCh38)
8:125501989 (GRCh37)
Canonical SPDI:: NC_000008.11:124489747:A:T
Gene:: TATDN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.124489748A>T, NC_000008.10:g.125501989A>T, NG_012158.1:g.19982A>T, NW_025791784.1:g.24698A>T

Select item 148987188614.

rs1489871886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:124474841 (GRCh38)
8:125487082 (GRCh37)
Canonical SPDI:: NC_000008.11:124474840:G:A
Gene:: RNF139 (Varview), RNF139-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.124474841G>A, NC_000008.10:g.125487082G>A, NG_012158.1:g.5075G>A, NM_007218.3:c.-269G>A, NW_025791784.1:g.9430G>A

Select item 148983649915.

rs1489836499 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:124482679 (GRCh38)
8:125494920 (GRCh37)
Canonical SPDI:: NC_000008.11:124482678:T:C,NC_000008.11:124482678:T:G
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.124482679T>C, NC_000008.11:g.124482679T>G, NC_000008.10:g.125494920T>C, NC_000008.10:g.125494920T>G, NG_012158.1:g.12913T>C, NG_012158.1:g.12913T>G, NW_025791784.1:g.17268T>C, NW_025791784.1:g.17268T>G

Select item 148966358616.

rs1489663586 has merged into rs368206010 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT [Show Flanks]
Chromosome:: 8:124483017 (GRCh38)
8:125495258 (GRCh37)
Canonical SPDI:: NC_000008.11:124483010:ATATATATATATAT:ATATAT,NC_000008.11:124483010:ATATATATATATAT:ATATATAT,NC_000008.11:124483010:ATATATATATATAT:ATATATATAT,NC_000008.11:124483010:ATATATATATATAT:ATATATATATAT,NC_000008.11:124483010:ATATATATATATAT:ATATATATATATATAT
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.00253/4 (Korea1K)
-=0.00449/73 (TOMMO)
HGVS:: NC_000008.11:g.124483011AT[3], NC_000008.11:g.124483011AT[4], NC_000008.11:g.124483011AT[5], NC_000008.11:g.124483011AT[6], NC_000008.11:g.124483011AT[8], NC_000008.10:g.125495252AT[3], NC_000008.10:g.125495252AT[4], NC_000008.10:g.125495252AT[5], NC_000008.10:g.125495252AT[6], NC_000008.10:g.125495252AT[8], NG_012158.1:g.13245AT[3], NG_012158.1:g.13245AT[4], NG_012158.1:g.13245AT[5], NG_012158.1:g.13245AT[6], NG_012158.1:g.13245AT[8], NW_025791784.1:g.17600AT[3], NW_025791784.1:g.17600AT[4], NW_025791784.1:g.17600AT[5], NW_025791784.1:g.17600AT[6], NW_025791784.1:g.17600AT[8]

Select item 148965992917.

rs1489659929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:124476110 (GRCh38)
8:125488351 (GRCh37)
Canonical SPDI:: NC_000008.11:124476109:T:C
Gene:: RNF139 (Varview), RNF139-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.124476110T>C, NC_000008.10:g.125488351T>C, NG_012158.1:g.6344T>C, NW_025791784.1:g.10699T>C

Select item 148957056418.

rs1489570564 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:124480427 (GRCh38)
8:125492668 (GRCh37)
Canonical SPDI:: NC_000008.11:124480426:GG:G
Gene:: RNF139 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000008.11:g.124480428del, NC_000008.10:g.125492669del, NG_012158.1:g.10662del, NW_025791784.1:g.15017del

Select item 148944336619.

rs1489443366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:124481116 (GRCh38)
8:125493357 (GRCh37)
Canonical SPDI:: NC_000008.11:124481115:A:C
Gene:: RNF139 (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_000008.11:g.124481116A>C, NC_000008.10:g.125493357A>C, NG_012158.1:g.11350A>C, NW_025791784.1:g.15705A>C

Select item 148941556320.

rs1489415563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:124475113 (GRCh38)
8:125487354 (GRCh37)
Canonical SPDI:: NC_000008.11:124475112:G:C
Gene:: RNF139 (Varview), RNF139-DT (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.124475113G>C, NC_000008.10:g.125487354G>C, NG_012158.1:g.5347G>C, NM_007218.4:c.4G>C, NM_007218.3:c.4G>C, NW_025791784.1:g.9702G>C, XM_047421310.1:c.-526G>C, NP_009149.2:p.Ala2Pro

<< First< Prev

Page of 248

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 4948

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity