SNP Links for Nucleotide (Select 543173178) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Nucleotide

Items: 1 to 20 of 489

<< First< Prev

Page of 25

Next >Last >>

Select item 14907084521.

rs1490708452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49665956 (GRCh38)
19:50169213 (GRCh37)
Canonical SPDI:: NC_000019.10:49665955:C:T
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49665956C>T, NC_000019.9:g.50169213C>T, NG_031810.1:g.4920G>A, NM_052842.2:c.133C>T, NM_138639.2:c.-120C>T, NM_138639.1:c.133C>T, NM_001040668.2:c.-120C>T, NM_001040668.1:c.133C>T, NM_001282519.2:c.-120C>T, NM_001282519.1:c.133C>T, NM_001282516.2:c.-120C>T, NM_001282516.1:c.133C>T, NM_001282517.2:c.-120C>T, NM_001282517.1:c.133C>T, NM_001282521.2:c.-120C>T, NM_001282521.1:c.133C>T, NR_104201.1:n.815C>T, NR_104202.1:n.815C>T, NR_104200.1:n.815C>T, NM_052842.1:c.133C>T, NM_001282520.1:c.133C>T, NR_104203.1:n.815C>T, NR_104204.1:n.815C>T, NR_104205.1:n.815C>T, NM_001385706.1:c.-120C>T, NP_001269449.1:p.Arg45Ter

Select item 14907049282.

rs1490704928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49665502 (GRCh38)
19:50168759 (GRCh37)
Canonical SPDI:: NC_000019.10:49665501:T:G
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49665502T>G, NC_000019.9:g.50168759T>G, NG_031810.1:g.5374A>C, NR_045568.2:n.356A>C, NR_045568.1:n.374A>C, NM_052842.2:c.-322T>G, NR_104201.1:n.361T>G, NM_138639.1:c.-322T>G, NM_001040668.1:c.-322T>G, NR_104202.1:n.361T>G, NR_104200.1:n.361T>G, NM_052842.1:c.-322T>G, NM_001282519.1:c.-322T>G, NM_001282516.1:c.-322T>G, NM_001282520.1:c.-322T>G, NR_104203.1:n.361T>G, NM_001282517.1:c.-322T>G, NM_001282521.1:c.-322T>G, NR_104204.1:n.361T>G, NR_104205.1:n.361T>G

Select item 14883943413.

rs1488394341 [Homo sapiens]

Variant type:: DEL
Alleles:: TCTTTCCT>- [Show Flanks]
Chromosome:: 19:49665445 (GRCh38)
19:50168702 (GRCh37)
Canonical SPDI:: NC_000019.10:49665444:TCTTTCCT:
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000214/3 (ALFA)
-=0.000143/20 (GnomAD)
-=0.000196/52 (TOPMED)
-=0.001097/18 (TOMMO)
-=0.009279/17 (Korea1K)
HGVS:: NC_000019.10:g.49665445_49665452del, NC_000019.9:g.50168702_50168709del, NG_031810.1:g.5424_5431del, NM_052842.2:c.-379_-372del, NR_104201.1:n.304_311del, NM_138639.1:c.-379_-372del, NM_001040668.1:c.-379_-372del, NR_104202.1:n.304_311del, NR_104200.1:n.304_311del, NM_052842.1:c.-379_-372del, NM_001282519.1:c.-379_-372del, NM_001282516.1:c.-379_-372del, NM_001282520.1:c.-379_-372del, NR_104203.1:n.304_311del, NM_001282517.1:c.-379_-372del, NM_001282521.1:c.-379_-372del, NR_104204.1:n.304_311del, NR_104205.1:n.304_311del

Select item 14873675714.

rs1487367571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49666730 (GRCh38)
19:50169987 (GRCh37)
Canonical SPDI:: NC_000019.10:49666729:C:T
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.49666730C>T, NC_000019.9:g.50169987C>T, NG_031810.1:g.4146G>A, NM_052842.2:c.290C>T, NM_138639.2:c.38C>T, NM_138639.1:c.290C>T, NM_001040668.2:c.38C>T, NM_001040668.1:c.290C>T, NM_001282519.2:c.38C>T, NM_001282519.1:c.290C>T, NM_001282516.2:c.38C>T, NM_001282516.1:c.290C>T, NM_001282517.2:c.38C>T, NM_001282517.1:c.290C>T, NM_001282521.2:c.38C>T, NM_001282521.1:c.290C>T, NR_104201.1:n.972C>T, NR_104202.1:n.972C>T, NR_104200.1:n.972C>T, NM_052842.1:c.290C>T, NM_001282520.1:c.290C>T, NR_104203.1:n.972C>T, NR_104204.1:n.972C>T, NR_104205.1:n.972C>T, NM_001385706.1:c.38C>T, NP_619580.2:p.Thr13Met, NP_001035758.2:p.Thr13Met, NP_001269448.2:p.Thr13Met, NP_001269445.2:p.Thr13Met, NP_001269446.2:p.Thr13Met, NP_001269450.2:p.Thr13Met, NP_001269449.1:p.Thr97Met, NP_001372635.1:p.Thr13Met

Select item 14846911735.

rs1484691173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49673702 (GRCh38)
19:50176959 (GRCh37)
Canonical SPDI:: NC_000019.10:49673701:G:A
Gene:: BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49673702G>A, NC_000019.9:g.50176959G>A, NG_031846.1:g.1551G>A, NM_052842.2:c.*285G>A, NM_138639.2:c.707G>A, NM_138639.1:c.959G>A, NM_001040668.2:c.704G>A, NM_001040668.1:c.956G>A, NM_001282519.2:c.483G>A, NM_001282519.1:c.735G>A, NM_001282516.2:c.434G>A, NM_001282516.1:c.686G>A, NM_001282517.2:c.*12G>A, NM_001282517.1:c.*12G>A, NM_001282521.2:c.255G>A, NM_001282521.1:c.507G>A, NR_104201.1:n.1690G>A, NR_104202.1:n.1547G>A, NR_104200.1:n.1498G>A, NM_052842.1:c.959G>A, NM_001282520.1:c.594G>A, NR_104203.1:n.1274G>A, NR_104204.1:n.1133G>A, NR_104205.1:n.1046G>A, NM_001385706.1:c.431G>A, NP_619580.2:p.Gly236Asp, NP_001035758.2:p.Gly235Asp, NP_001269445.2:p.Gly145Asp, NP_001372635.1:p.Gly144Asp

Select item 14829614536.

rs1482961453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49665505 (GRCh38)
19:50168762 (GRCh37)
Canonical SPDI:: NC_000019.10:49665504:C:T
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.49665505C>T, NC_000019.9:g.50168762C>T, NG_031810.1:g.5371G>A, NR_045568.2:n.353G>A, NR_045568.1:n.371G>A, NM_052842.2:c.-319C>T, NR_104201.1:n.364C>T, NM_138639.1:c.-319C>T, NM_001040668.1:c.-319C>T, NR_104202.1:n.364C>T, NR_104200.1:n.364C>T, NM_052842.1:c.-319C>T, NM_001282519.1:c.-319C>T, NM_001282516.1:c.-319C>T, NM_001282520.1:c.-319C>T, NR_104203.1:n.364C>T, NM_001282517.1:c.-319C>T, NM_001282521.1:c.-319C>T, NR_104204.1:n.364C>T, NR_104205.1:n.364C>T

Select item 14828523287.

rs1482852328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49665873 (GRCh38)
19:50169130 (GRCh37)
Canonical SPDI:: NC_000019.10:49665872:T:C
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49665873T>C, NC_000019.9:g.50169130T>C, NG_031810.1:g.5003A>G, NM_001571.5:c.-251A>G, NM_052842.2:c.50T>C, NR_104201.1:n.732T>C, NM_138639.1:c.50T>C, NM_001040668.1:c.50T>C, NR_045568.1:n.3A>G, NR_104202.1:n.732T>C, NR_104200.1:n.732T>C, NM_052842.1:c.50T>C, NM_001197123.1:c.-414A>G, NM_001197122.1:c.-251A>G, NM_001282519.1:c.50T>C, NM_001282516.1:c.50T>C, NM_001282520.1:c.50T>C, NR_104203.1:n.732T>C, NM_001197125.1:c.-516A>G, NM_001282517.1:c.50T>C, NM_001282521.1:c.50T>C, NR_104204.1:n.732T>C, NM_001197126.1:c.-344A>G, NR_104205.1:n.732T>C, NM_001197124.1:c.-251A>G, NM_001197127.1:c.-516A>G, NM_001197128.1:c.-344A>G, NP_001269449.1:p.Phe17Ser

Select item 14806856848.

rs1480685684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49666744 (GRCh38)
19:50170001 (GRCh37)
Canonical SPDI:: NC_000019.10:49666743:G:A
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49666744G>A, NC_000019.9:g.50170001G>A, NG_031810.1:g.4132C>T, NM_052842.2:c.304G>A, NM_138639.2:c.52G>A, NM_138639.1:c.304G>A, NM_001040668.2:c.52G>A, NM_001040668.1:c.304G>A, NM_001282519.2:c.52G>A, NM_001282519.1:c.304G>A, NM_001282516.2:c.52G>A, NM_001282516.1:c.304G>A, NM_001282517.2:c.52G>A, NM_001282517.1:c.304G>A, NM_001282521.2:c.52G>A, NM_001282521.1:c.304G>A, NR_104201.1:n.986G>A, NR_104202.1:n.986G>A, NR_104200.1:n.986G>A, NM_052842.1:c.304G>A, NM_001282520.1:c.304G>A, NR_104203.1:n.986G>A, NR_104204.1:n.986G>A, NR_104205.1:n.986G>A, NM_001385706.1:c.52G>A, NP_619580.2:p.Ala18Thr, NP_001035758.2:p.Ala18Thr, NP_001269448.2:p.Ala18Thr, NP_001269445.2:p.Ala18Thr, NP_001269446.2:p.Ala18Thr, NP_001269450.2:p.Ala18Thr, NP_001269449.1:p.Ala102Thr, NP_001372635.1:p.Ala18Thr

Select item 14772872649.

rs1477287264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49666732 (GRCh38)
19:50169989 (GRCh37)
Canonical SPDI:: NC_000019.10:49666731:C:T
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49666732C>T, NC_000019.9:g.50169989C>T, NG_031810.1:g.4144G>A, NM_052842.2:c.292C>T, NM_138639.2:c.40C>T, NM_138639.1:c.292C>T, NM_001040668.2:c.40C>T, NM_001040668.1:c.292C>T, NM_001282519.2:c.40C>T, NM_001282519.1:c.292C>T, NM_001282516.2:c.40C>T, NM_001282516.1:c.292C>T, NM_001282517.2:c.40C>T, NM_001282517.1:c.292C>T, NM_001282521.2:c.40C>T, NM_001282521.1:c.292C>T, NR_104201.1:n.974C>T, NR_104202.1:n.974C>T, NR_104200.1:n.974C>T, NM_052842.1:c.292C>T, NM_001282520.1:c.292C>T, NR_104203.1:n.974C>T, NR_104204.1:n.974C>T, NR_104205.1:n.974C>T, NM_001385706.1:c.40C>T

Select item 147469842210.

rs1474698422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49665481 (GRCh38)
19:50168738 (GRCh37)
Canonical SPDI:: NC_000019.10:49665480:G:A
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49665481G>A, NC_000019.9:g.50168738G>A, NG_031810.1:g.5395C>T, NM_052842.2:c.-343G>A, NR_104201.1:n.340G>A, NM_138639.1:c.-343G>A, NM_001040668.1:c.-343G>A, NR_104202.1:n.340G>A, NR_104200.1:n.340G>A, NM_052842.1:c.-343G>A, NM_001282519.1:c.-343G>A, NM_001282516.1:c.-343G>A, NM_001282520.1:c.-343G>A, NR_104203.1:n.340G>A, NM_001282517.1:c.-343G>A, NM_001282521.1:c.-343G>A, NR_104204.1:n.340G>A, NR_104205.1:n.340G>A

Select item 147209643211.

rs1472096432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:49665595 (GRCh38)
19:50168852 (GRCh37)
Canonical SPDI:: NC_000019.10:49665594:A:C,NC_000019.10:49665594:A:G
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.49665595A>C, NC_000019.10:g.49665595A>G, NC_000019.9:g.50168852A>C, NC_000019.9:g.50168852A>G, NG_031810.1:g.5281T>G, NG_031810.1:g.5281T>C, NR_045568.2:n.263T>G, NR_045568.2:n.263T>C, NR_045568.1:n.281T>G, NR_045568.1:n.281T>C, NM_052842.2:c.-229A>C, NM_052842.2:c.-229A>G, NR_104201.1:n.454A>C, NR_104201.1:n.454A>G, NM_138639.1:c.-229A>C, NM_138639.1:c.-229A>G, NM_001040668.1:c.-229A>C, NM_001040668.1:c.-229A>G, NR_104202.1:n.454A>C, NR_104202.1:n.454A>G, NR_104200.1:n.454A>C, NR_104200.1:n.454A>G, NM_052842.1:c.-229A>C, NM_052842.1:c.-229A>G, NM_001282519.1:c.-229A>C, NM_001282519.1:c.-229A>G, NM_001282516.1:c.-229A>C, NM_001282516.1:c.-229A>G, NM_001282520.1:c.-229A>C, NM_001282520.1:c.-229A>G, NR_104203.1:n.454A>C, NR_104203.1:n.454A>G, NM_001282517.1:c.-229A>C, NM_001282517.1:c.-229A>G, NM_001282521.1:c.-229A>C, NM_001282521.1:c.-229A>G, NR_104204.1:n.454A>C, NR_104204.1:n.454A>G, NR_104205.1:n.454A>C, NR_104205.1:n.454A>G

Select item 147078540712.

rs1470785407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49665596 (GRCh38)
19:50168853 (GRCh37)
Canonical SPDI:: NC_000019.10:49665595:C:T
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49665596C>T, NC_000019.9:g.50168853C>T, NG_031810.1:g.5280G>A, NR_045568.2:n.262G>A, NR_045568.1:n.280G>A, NM_052842.2:c.-228C>T, NR_104201.1:n.455C>T, NM_138639.1:c.-228C>T, NM_001040668.1:c.-228C>T, NR_104202.1:n.455C>T, NR_104200.1:n.455C>T, NM_052842.1:c.-228C>T, NM_001282519.1:c.-228C>T, NM_001282516.1:c.-228C>T, NM_001282520.1:c.-228C>T, NR_104203.1:n.455C>T, NM_001282517.1:c.-228C>T, NM_001282521.1:c.-228C>T, NR_104204.1:n.455C>T, NR_104205.1:n.455C>T

Select item 146997672413.

rs1469976724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49666013 (GRCh38)
19:50169270 (GRCh37)
Canonical SPDI:: NC_000019.10:49666012:C:G,NC_000019.10:49666012:C:T
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49666013C>G, NC_000019.10:g.49666013C>T, NC_000019.9:g.50169270C>G, NC_000019.9:g.50169270C>T, NG_031810.1:g.4863G>C, NG_031810.1:g.4863G>A, NM_052842.2:c.190C>G, NM_052842.2:c.190C>T, NM_138639.2:c.-63C>G, NM_138639.2:c.-63C>T, NM_138639.1:c.190C>G, NM_138639.1:c.190C>T, NM_001040668.2:c.-63C>G, NM_001040668.2:c.-63C>T, NM_001040668.1:c.190C>G, NM_001040668.1:c.190C>T, NM_001282519.2:c.-63C>G, NM_001282519.2:c.-63C>T, NM_001282519.1:c.190C>G, NM_001282519.1:c.190C>T, NM_001282516.2:c.-63C>G, NM_001282516.2:c.-63C>T, NM_001282516.1:c.190C>G, NM_001282516.1:c.190C>T, NM_001282517.2:c.-63C>G, NM_001282517.2:c.-63C>T, NM_001282517.1:c.190C>G, NM_001282517.1:c.190C>T, NM_001282521.2:c.-63C>G, NM_001282521.2:c.-63C>T, NM_001282521.1:c.190C>G, NM_001282521.1:c.190C>T, NR_104201.1:n.872C>G, NR_104201.1:n.872C>T, NR_104202.1:n.872C>G, NR_104202.1:n.872C>T, NR_104200.1:n.872C>G, NR_104200.1:n.872C>T, NM_052842.1:c.190C>G, NM_052842.1:c.190C>T, NM_001282520.1:c.190C>G, NM_001282520.1:c.190C>T, NR_104203.1:n.872C>G, NR_104203.1:n.872C>T, NR_104204.1:n.872C>G, NR_104204.1:n.872C>T, NR_104205.1:n.872C>G, NR_104205.1:n.872C>T, NM_001385706.1:c.-63C>G, NM_001385706.1:c.-63C>T, NP_001269449.1:p.Gln64Glu, NP_001269449.1:p.Gln64Ter

Select item 146964030514.

rs1469640305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49665552 (GRCh38)
19:50168809 (GRCh37)
Canonical SPDI:: NC_000019.10:49665551:C:T
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49665552C>T, NC_000019.9:g.50168809C>T, NG_031810.1:g.5324G>A, NR_045568.2:n.306G>A, NR_045568.1:n.324G>A, NM_052842.2:c.-272C>T, NR_104201.1:n.411C>T, NM_138639.1:c.-272C>T, NM_001040668.1:c.-272C>T, NR_104202.1:n.411C>T, NR_104200.1:n.411C>T, NM_052842.1:c.-272C>T, NM_001282519.1:c.-272C>T, NM_001282516.1:c.-272C>T, NM_001282520.1:c.-272C>T, NR_104203.1:n.411C>T, NM_001282517.1:c.-272C>T, NM_001282521.1:c.-272C>T, NR_104204.1:n.411C>T, NR_104205.1:n.411C>T

Select item 146876582615.

rs1468765826 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:49665299 (GRCh38)
19:50168556 (GRCh37)
Canonical SPDI:: NC_000019.10:49665297:AGA:A
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.49665299_49665300del, NC_000019.9:g.50168556_50168557del, NG_031810.1:g.5577_5578del, NM_052842.2:c.-525_-524del, NR_104201.1:n.158_159del, NM_138639.1:c.-525_-524del, NM_001040668.1:c.-525_-524del, NR_104202.1:n.158_159del, NR_104200.1:n.158_159del, NM_052842.1:c.-525_-524del, NM_001282519.1:c.-525_-524del, NM_001282516.1:c.-525_-524del, NM_001282520.1:c.-525_-524del, NR_104203.1:n.158_159del, NM_001282517.1:c.-525_-524del, NM_001282521.1:c.-525_-524del, NR_104204.1:n.158_159del, NR_104205.1:n.158_159del

Select item 146812031516.

rs1468120315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49665349 (GRCh38)
19:50168606 (GRCh37)
Canonical SPDI:: NC_000019.10:49665348:G:A,NC_000019.10:49665348:G:C
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
C=0.000343/1 (KOREAN)
HGVS:: NC_000019.10:g.49665349G>A, NC_000019.10:g.49665349G>C, NC_000019.9:g.50168606G>A, NC_000019.9:g.50168606G>C, NG_031810.1:g.5527C>T, NG_031810.1:g.5527C>G, NM_052842.2:c.-475G>A, NM_052842.2:c.-475G>C, NR_104201.1:n.208G>A, NR_104201.1:n.208G>C, NM_138639.1:c.-475G>A, NM_138639.1:c.-475G>C, NM_001040668.1:c.-475G>A, NM_001040668.1:c.-475G>C, NR_104202.1:n.208G>A, NR_104202.1:n.208G>C, NR_104200.1:n.208G>A, NR_104200.1:n.208G>C, NM_052842.1:c.-475G>A, NM_052842.1:c.-475G>C, NM_001282519.1:c.-475G>A, NM_001282519.1:c.-475G>C, NM_001282516.1:c.-475G>A, NM_001282516.1:c.-475G>C, NM_001282520.1:c.-475G>A, NM_001282520.1:c.-475G>C, NR_104203.1:n.208G>A, NR_104203.1:n.208G>C, NM_001282517.1:c.-475G>A, NM_001282517.1:c.-475G>C, NM_001282521.1:c.-475G>A, NM_001282521.1:c.-475G>C, NR_104204.1:n.208G>A, NR_104204.1:n.208G>C, NR_104205.1:n.208G>A, NR_104205.1:n.208G>C

Select item 146302456217.

rs1463024562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49665381 (GRCh38)
19:50168638 (GRCh37)
Canonical SPDI:: NC_000019.10:49665380:C:T
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.49665381C>T, NC_000019.9:g.50168638C>T, NG_031810.1:g.5495G>A, NM_052842.2:c.-443C>T, NR_104201.1:n.240C>T, NM_138639.1:c.-443C>T, NM_001040668.1:c.-443C>T, NR_104202.1:n.240C>T, NR_104200.1:n.240C>T, NM_052842.1:c.-443C>T, NM_001282519.1:c.-443C>T, NM_001282516.1:c.-443C>T, NM_001282520.1:c.-443C>T, NR_104203.1:n.240C>T, NM_001282517.1:c.-443C>T, NM_001282521.1:c.-443C>T, NR_104204.1:n.240C>T, NR_104205.1:n.240C>T

Select item 146069557018.

rs1460695570 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:49665855 (GRCh38)
19:50169112 (GRCh37)
Canonical SPDI:: NC_000019.10:49665854:T:
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000094/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49665855del, NC_000019.9:g.50169112del, NG_031810.1:g.5021del, NM_001571.6:c.-233del, NM_001571.5:c.-233del, NR_045568.2:n.3del, NR_045568.1:n.21del, NM_001197123.2:c.-396del, NM_001197123.1:c.-396del, NM_001197122.2:c.-233del, NM_001197122.1:c.-233del, NM_001197125.2:c.-498del, NM_001197125.1:c.-498del, NM_001197126.2:c.-326del, NM_001197126.1:c.-326del, NM_001197124.2:c.-233del, NM_001197124.1:c.-233del, NM_001197127.2:c.-498del, NM_001197127.1:c.-498del, NM_001197128.2:c.-326del, NM_001197128.1:c.-326del, NM_052842.2:c.32del, XM_017026766.2:c.-229del, XM_006723198.2:c.-192del, XM_024451494.2:c.-619del, XM_024451495.2:c.-615del, XM_017026767.2:c.-192del, XM_006723201.2:c.-498del, NR_104201.1:n.714del, NM_138639.1:c.32del, NM_001040668.1:c.32del, NR_104202.1:n.714del, NR_104200.1:n.714del, NM_052842.1:c.32del, NM_001282519.1:c.32del, XM_006723197.1:c.-229del, NM_001282516.1:c.32del, XM_047438784.1:c.-578del, XM_047438785.1:c.-585del, NM_001282520.1:c.32del, NR_104203.1:n.714del, NM_001282517.1:c.32del, NM_001282521.1:c.32del, NR_104204.1:n.714del, NR_104205.1:n.714del, NP_001269449.1:p.Leu11fs

Select item 145979232119.

rs1459792321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49666720 (GRCh38)
19:50169977 (GRCh37)
Canonical SPDI:: NC_000019.10:49666719:C:T
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.49666720C>T, NC_000019.9:g.50169977C>T, NG_031810.1:g.4156G>A, NM_052842.2:c.280C>T, NM_138639.2:c.28C>T, NM_138639.1:c.280C>T, NM_001040668.2:c.28C>T, NM_001040668.1:c.280C>T, NM_001282519.2:c.28C>T, NM_001282519.1:c.280C>T, NM_001282516.2:c.28C>T, NM_001282516.1:c.280C>T, NM_001282517.2:c.28C>T, NM_001282517.1:c.280C>T, NM_001282521.2:c.28C>T, NM_001282521.1:c.280C>T, NR_104201.1:n.962C>T, NR_104202.1:n.962C>T, NR_104200.1:n.962C>T, NM_052842.1:c.280C>T, NM_001282520.1:c.280C>T, NR_104203.1:n.962C>T, NR_104204.1:n.962C>T, NR_104205.1:n.962C>T, NM_001385706.1:c.28C>T, NP_619580.2:p.Arg10Trp, NP_001035758.2:p.Arg10Trp, NP_001269448.2:p.Arg10Trp, NP_001269445.2:p.Arg10Trp, NP_001269446.2:p.Arg10Trp, NP_001269450.2:p.Arg10Trp, NP_001269449.1:p.Arg94Trp, NP_001372635.1:p.Arg10Trp

Select item 145634714420.

rs1456347144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49665843 (GRCh38)
19:50169100 (GRCh37)
Canonical SPDI:: NC_000019.10:49665842:T:G
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49665843T>G, NC_000019.9:g.50169100T>G, NG_031810.1:g.5033A>C, NM_001571.6:c.-221A>C, NM_001571.5:c.-221A>C, NR_045568.2:n.15A>C, NR_045568.1:n.33A>C, NM_001197123.2:c.-384A>C, NM_001197123.1:c.-384A>C, NM_001197122.2:c.-221A>C, NM_001197122.1:c.-221A>C, NM_001197125.2:c.-486A>C, NM_001197125.1:c.-486A>C, NM_001197126.2:c.-314A>C, NM_001197126.1:c.-314A>C, NM_001197124.2:c.-221A>C, NM_001197124.1:c.-221A>C, NM_001197127.2:c.-486A>C, NM_001197127.1:c.-486A>C, NM_001197128.2:c.-314A>C, NM_001197128.1:c.-314A>C, NM_052842.2:c.20T>G, XM_017026766.2:c.-217A>C, XM_017026766.1:c.-217A>C, XM_006723198.2:c.-180A>C, XM_024451494.2:c.-607A>C, XM_024451494.1:c.-607A>C, XM_024451495.2:c.-603A>C, XM_024451495.1:c.-603A>C, XM_017026767.2:c.-180A>C, XM_006723201.2:c.-486A>C, NR_104201.1:n.702T>G, NM_138639.1:c.20T>G, NM_001040668.1:c.20T>G, NR_104202.1:n.702T>G, NR_104200.1:n.702T>G, NM_052842.1:c.20T>G, NM_001282519.1:c.20T>G, XM_006723197.1:c.-217A>C, NM_001282516.1:c.20T>G, XM_047438784.1:c.-566A>C, XM_047438785.1:c.-573A>C, NM_001282520.1:c.20T>G, NR_104203.1:n.702T>G, NM_001282517.1:c.20T>G, NM_001282521.1:c.20T>G, NR_104204.1:n.702T>G, NR_104205.1:n.702T>G, NP_001269449.1:p.Leu7Arg

<< First< Prev

Page of 25

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Nucleotide (Select 543173178) (489)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: