SNP Links for Nucleotide (Select 542133133) - SNP

Links from Nucleotide

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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 14831807156.

rs1483180715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49668898 (GRCh38)
19:50172155 (GRCh37)
Canonical SPDI:: NC_000019.10:49668897:C:A
Gene:: BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49668898C>A, NC_000019.9:g.50172155C>A, NG_031810.1:g.1978G>T, NM_052842.2:c.407C>A, NM_138639.2:c.298C>A, NM_138639.1:c.550C>A, NM_001040668.2:c.295C>A, NM_001040668.1:c.547C>A, NM_001282519.2:c.298C>A, NM_001282519.1:c.550C>A, NM_001282516.2:c.298C>A, NM_001282516.1:c.550C>A, NM_001282517.2:c.155C>A, NM_001282517.1:c.407C>A, NR_104201.1:n.1232C>A, NR_104202.1:n.1089C>A, NR_104200.1:n.1089C>A, NM_052842.1:c.550C>A, NM_001282520.1:c.550C>A, NR_104203.1:n.1089C>A, NR_104204.1:n.1089C>A, NM_001385706.1:c.295C>A, NP_619580.2:p.Gln100Lys, NP_001035758.2:p.Gln99Lys, NP_001269448.2:p.Gln100Lys, NP_001269445.2:p.Gln100Lys, NP_001269446.2:p.Thr52Lys, NP_001269449.1:p.Gln184Lys, NP_001372635.1:p.Gln99Lys

Select item 14829614537.

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 14828523288.

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 14815407009.

rs1481540700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49667086 (GRCh38)
19:50170343 (GRCh37)
Canonical SPDI:: NC_000019.10:49667085:G:C
Gene:: IRF3 (Varview), BCL2L12 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49667086G>C, NC_000019.9:g.50170343G>C, NG_031810.1:g.3790C>G, NM_138639.2:c.175G>C, NM_138639.1:c.427G>C, NM_001040668.2:c.172G>C, NM_001040668.1:c.424G>C, NM_001282519.2:c.175G>C, NM_001282519.1:c.427G>C, NM_001282516.2:c.175G>C, NM_001282516.1:c.427G>C, NM_001282521.2:c.175G>C, NM_001282521.1:c.427G>C, NR_104201.1:n.1109G>C, NM_052842.1:c.427G>C, NM_001282520.1:c.427G>C, NM_001385706.1:c.172G>C, NP_619580.2:p.Gly59Arg, NP_001035758.2:p.Gly58Arg, NP_001269448.2:p.Gly59Arg, NP_001269445.2:p.Gly59Arg, NP_001269450.2:p.Gly59Arg, NP_001269449.1:p.Gly143Arg, NP_001372635.1:p.Gly58Arg

Select item 148068568410.

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 147728726411.

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 147469842212.

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 147209643213.

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 147078540714.

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 146999591715.

rs1469995917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49668851 (GRCh38)
19:50172108 (GRCh37)
Canonical SPDI:: NC_000019.10:49668850:G:A
Gene:: BCL2L12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49668851G>A, NC_000019.9:g.50172108G>A, NG_031810.1:g.2025C>T, NM_052842.2:c.360G>A, NM_138639.2:c.251G>A, NM_138639.1:c.503G>A, NM_001040668.2:c.248G>A, NM_001040668.1:c.500G>A, NM_001282519.2:c.251G>A, NM_001282519.1:c.503G>A, NM_001282516.2:c.251G>A, NM_001282516.1:c.503G>A, NM_001282517.2:c.108G>A, NM_001282517.1:c.360G>A, NR_104201.1:n.1185G>A, NR_104202.1:n.1042G>A, NR_104200.1:n.1042G>A, NM_052842.1:c.503G>A, NM_001282520.1:c.503G>A, NR_104203.1:n.1042G>A, NR_104204.1:n.1042G>A, NM_001385706.1:c.248G>A, NP_619580.2:p.Gly84Asp, NP_001035758.2:p.Gly83Asp, NP_001269448.2:p.Gly84Asp, NP_001269445.2:p.Gly84Asp, NP_001269449.1:p.Gly168Asp, NP_001372635.1:p.Gly83Asp

Select item 146997672416.

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 146964030517.

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 146876582618.

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 146812031519.

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 146302456220.

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

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