SNP Links for Nucleotide (Select 323098347) - SNP

Select item 14905760241.

rs1490576024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:71999481 (GRCh38)
11:71710527 (GRCh37)
Canonical SPDI:: NC_000011.10:71999480:G:C,NC_000011.10:71999480:G:T
Gene:: IL18BP (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71999481G>C, NC_000011.10:g.71999481G>T, NC_000011.9:g.71710527G>C, NC_000011.9:g.71710527G>T, NG_029021.1:g.5570G>C, NG_029021.1:g.5570G>T, NM_005699.3:c.-504G>C, NM_005699.3:c.-504G>T, NM_173042.2:c.-504G>C, NM_173042.2:c.-504G>T, XM_017017061.3:c.-367G>C, XM_017017061.3:c.-367G>T, XM_017017061.2:c.-367G>C, XM_017017061.2:c.-367G>T, XM_017017061.1:c.-367G>C, XM_017017061.1:c.-367G>T, XM_017017059.2:c.-504G>C, XM_017017059.2:c.-504G>T, XM_017017059.1:c.-504G>C, XM_017017059.1:c.-504G>T, XM_047426203.1:c.-240G>C, XM_047426203.1:c.-240G>T, XM_047426204.1:c.-240G>C, XM_047426204.1:c.-240G>T, NM_173043.1:c.-510G>C, NM_173043.1:c.-510G>T

Select item 14895823222.

rs1489582322 has merged into rs750312451 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAAGCCAGCTACTGAG>-,GAAAAGCCAGCTACTGAGGAAAAGCCAGCTACTGAG [Show Flanks]
Chromosome:: 11:71999863 (GRCh38)
11:71710909 (GRCh37)
Canonical SPDI:: NC_000011.10:71999847:AAGCCAGCTACTGAGGAAAAGCCAGCTACTGAG:AAGCCAGCTACTGAG,NC_000011.10:71999847:AAGCCAGCTACTGAGGAAAAGCCAGCTACTGAG:AAGCCAGCTACTGAGGAAAAGCCAGCTACTGAGGAAAAGCCAGCTACTGAG
Gene:: IL18BP (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGCCAGCTACTGAGGAAAAGCCAGCTACTGAGGAAAAGCCAGCTACTGAG=0.000054/1 (ALFA)
-=0./0 (ALSPAC)
-=0.000117/31 (TOPMED)
-=0.00027/1 (TWINSUK)
-=0.001638/3 (Korea1K)
-=0.004673/1 (Vietnamese)
HGVS:: NC_000011.10:g.71999863_71999880del, NC_000011.10:g.71999863_71999880dup, NC_000011.9:g.71710909_71710926del, NC_000011.9:g.71710909_71710926dup, NG_029021.1:g.5952_5969del, NG_029021.1:g.5952_5969dup, NM_005699.3:c.-122_-105del, NM_005699.3:c.-122_-105dup, NM_173042.2:c.-122_-105del, NM_173042.2:c.-122_-105dup, XM_017017061.3:c.-122_-105del, XM_017017061.3:c.-122_-105dup, XM_017017061.2:c.-122_-105del, XM_017017061.2:c.-122_-105dup, XM_017017061.1:c.-122_-105del, XM_017017061.1:c.-122_-105dup, XM_017017059.2:c.-122_-105del, XM_017017059.2:c.-122_-105dup, XM_017017059.1:c.-122_-105del, XM_017017059.1:c.-122_-105dup, XM_024448303.2:c.-122_-105del, XM_024448303.2:c.-122_-105dup, XM_024448303.1:c.-122_-105del, XM_024448303.1:c.-122_-105dup, XM_047426208.1:c.-122_-105del, XM_047426208.1:c.-122_-105dup, NM_173043.1:c.-128_-111del, NM_173043.1:c.-128_-111dup

Select item 14877759473.

rs1487775947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:71999078 (GRCh38)
11:71710124 (GRCh37)
Canonical SPDI:: NC_000011.10:71999077:A:G
Gene:: IL18BP (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.71999078A>G, NC_000011.9:g.71710124A>G, NG_029021.1:g.5167A>G, NM_005699.3:c.-907A>G, NM_173042.2:c.-907A>G, NM_173043.1:c.-913A>G

Select item 14862753394.

rs1486275339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72002158 (GRCh38)
11:71713204 (GRCh37)
Canonical SPDI:: NC_000011.10:72002157:T:C
Gene:: IL18BP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.72002158T>C, NC_000011.9:g.71713204T>C, NG_029021.1:g.8247T>C, NM_005699.3:c.*513T>C, NM_173044.3:c.*262T>C, NM_173044.2:c.*262T>C, NM_173042.2:c.*297T>C, NM_001039659.2:c.*297T>C, NM_001039659.1:c.*297T>C, NM_001039660.2:c.*297T>C, NM_001039660.1:c.*297T>C, NM_001145057.1:c.*297T>C, NM_001145055.1:c.*262T>C, XM_017017061.3:c.*297T>C, XM_017017061.2:c.*297T>C, XM_017017061.1:c.*297T>C, XM_017017059.2:c.*297T>C, XM_017017059.1:c.*297T>C, XM_024448304.2:c.*297T>C, XM_024448304.1:c.*297T>C, XM_024448303.2:c.*297T>C, XM_024448303.1:c.*297T>C, XM_017017063.2:c.*297T>C, XM_017017063.1:c.*297T>C, XM_047426203.1:c.*297T>C, XM_047426206.1:c.*297T>C, XM_047426207.1:c.*297T>C, XM_047426204.1:c.*297T>C, XM_047426208.1:c.*297T>C, XM_047426205.1:c.*297T>C, NM_173043.1:c.*262T>C

Select item 14860324615.

rs1486032461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:71999725 (GRCh38)
11:71710771 (GRCh37)
Canonical SPDI:: NC_000011.10:71999724:A:T
Gene:: IL18BP (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.71999725A>T, NC_000011.9:g.71710771A>T, NG_029021.1:g.5814A>T, NM_005699.3:c.-260A>T, NM_173042.2:c.-260A>T, XM_017017059.2:c.-260A>T, XM_017017059.1:c.-260A>T, NM_173043.1:c.-266A>T

Select item 14847130836.

rs1484713083 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:72002867 (GRCh38)
11:71713913 (GRCh37)
Canonical SPDI:: NC_000011.10:72002866:C:
Gene:: NUMA1 (Varview), IL18BP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.72002867del, NC_000011.9:g.71713913del, NG_029021.1:g.8956del, NM_005699.3:c.*1222del, NM_006185.4:c.*660del, NM_006185.3:c.*660del, NM_006185.2:c.*660del, XM_011545062.3:c.*660del, XM_011545062.2:c.*660del, XM_011545062.1:c.*660del, XM_011545059.3:c.*660del, XM_011545059.2:c.*660del, XM_011545059.1:c.*660del, XM_011545060.3:c.*660del, XM_011545060.2:c.*660del, XM_011545060.1:c.*660del, XM_011545056.3:c.*660del, XM_011545056.2:c.*660del, XM_011545056.1:c.*660del, XM_011545057.3:c.*660del, XM_011545057.2:c.*660del, XM_011545057.1:c.*660del, XM_011545054.3:c.*660del, XM_011545054.2:c.*660del, XM_011545054.1:c.*660del, XM_011545065.3:c.*660del, XM_011545065.2:c.*660del, XM_011545065.1:c.*660del, XM_006718564.3:c.*660del, XM_006718564.2:c.*660del, XM_006718564.1:c.*660del, XM_011545066.3:c.*660del, XM_011545066.2:c.*660del, XM_011545066.1:c.*660del, XM_011545063.3:c.*660del, XM_011545063.2:c.*660del, XM_011545063.1:c.*660del, XM_017017831.2:c.*660del, XM_024448555.2:c.*660del, XM_024448555.1:c.*660del, XM_024448556.2:c.*660del, XM_011545064.2:c.*660del, XM_011545064.1:c.*660del, NM_001286561.2:c.*660del, NM_001286561.1:c.*660del, XM_011545055.2:c.*660del, XM_011545055.1:c.*660del, XM_011545058.2:c.*660del, XM_011545058.1:c.*660del, XM_017017830.2:c.*660del, NR_104476.2:n.3925del, NR_104476.1:n.3857del, XM_047427002.1:c.*660del, XM_047427006.1:c.*660del, XM_047427014.1:c.*660del, XM_047427005.1:c.*660del, XM_047427000.1:c.*660del, XM_047427012.1:c.*660del, XM_047427013.1:c.*660del, XM_047427022.1:c.*660del, XM_047427021.1:c.*660del, XM_047426998.1:c.*660del, XM_047427004.1:c.*660del, XM_047426999.1:c.*660del, XM_047427010.1:c.*660del, XM_047427008.1:c.*660del, XM_047427018.1:c.*660del, XM_047427026.1:c.*660del, XM_047427019.1:c.*660del, XM_047426996.1:c.*660del, XM_047427017.1:c.*660del, XM_047427009.1:c.*660del, XM_047426997.1:c.*660del, XM_047427025.1:c.*660del, XM_047427001.1:c.*660del, XM_047427011.1:c.*660del, XM_047426995.1:c.*660del, XM_047427020.1:c.*660del, XM_047427003.1:c.*660del, XM_047427007.1:c.*660del, XM_047427016.1:c.*660del, XM_047427015.1:c.*660del, XM_047427023.1:c.*660del, XM_047427024.1:c.*660del, NM_173043.1:c.*971del

Select item 14845772127.

rs1484577212 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:72002509 (GRCh38)
11:71713555 (GRCh37)
Canonical SPDI:: NC_000011.10:72002507:ATA:A
Gene:: NUMA1 (Varview), IL18BP (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72002509_72002510del, NC_000011.9:g.71713555_71713556del, NG_029021.1:g.8598_8599del, NM_005699.3:c.*864_*865del, NM_173044.3:c.*613_*614del, NM_173044.2:c.*613_*614del, NM_173042.2:c.*648_*649del, NM_001039659.2:c.*648_*649del, NM_001039659.1:c.*648_*649del, NM_001039660.2:c.*648_*649del, NM_001039660.1:c.*648_*649del, NM_001145057.1:c.*648_*649del, NM_001145055.1:c.*613_*614del, XM_017017061.3:c.*648_*649del, XM_017017061.2:c.*648_*649del, XM_017017061.1:c.*648_*649del, XM_017017059.2:c.*648_*649del, XM_017017059.1:c.*648_*649del, XM_024448304.2:c.*648_*649del, XM_024448304.1:c.*648_*649del, XM_024448303.2:c.*648_*649del, XM_024448303.1:c.*648_*649del, XM_017017063.2:c.*648_*649del, XM_017017063.1:c.*648_*649del, XM_047426203.1:c.*648_*649del, XM_047426206.1:c.*648_*649del, XM_047426207.1:c.*648_*649del, XM_047426204.1:c.*648_*649del, XM_047426208.1:c.*648_*649del, XM_047426205.1:c.*648_*649del, NM_173043.1:c.*613_*614del

Select item 14825669658.

rs1482566965 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:72001912 (GRCh38)
11:71712959 (GRCh37)
Canonical SPDI:: NC_000011.10:72001912:A:AA
Gene:: IL18BP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72001913dup, NC_000011.9:g.71712959dup, NG_029021.1:g.8002dup, NM_005699.3:c.*268dup, NM_173044.3:c.*17dup, NM_173044.2:c.*17dup, NM_173042.2:c.*52dup, NM_001039659.2:c.*52dup, NM_001039659.1:c.*52dup, NM_001039660.2:c.*52dup, NM_001039660.1:c.*52dup, NM_001145057.1:c.*52dup, NM_001145055.1:c.*17dup, XM_017017061.3:c.*52dup, XM_017017061.2:c.*52dup, XM_017017061.1:c.*52dup, XM_017017059.2:c.*52dup, XM_017017059.1:c.*52dup, XM_024448304.2:c.*52dup, XM_024448304.1:c.*52dup, XM_024448303.2:c.*52dup, XM_024448303.1:c.*52dup, XM_017017063.2:c.*52dup, XM_017017063.1:c.*52dup, XM_047426203.1:c.*52dup, XM_047426206.1:c.*52dup, XM_047426207.1:c.*52dup, XM_047426204.1:c.*52dup, XM_047426208.1:c.*52dup, XM_047426205.1:c.*52dup, NM_173043.1:c.*17dup

Select item 14821641159.

rs1482164115 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 11:72002623 (GRCh38)
11:71713669 (GRCh37)
Canonical SPDI:: NC_000011.10:72002620:AGAAG:AG
Gene:: NUMA1 (Varview), IL18BP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72002623_72002625del, NC_000011.9:g.71713669_71713671del, NG_029021.1:g.8712_8714del, NM_005699.3:c.*978_*980del, NM_173044.3:c.*727_*729del, NM_173044.2:c.*727_*729del, NM_001039659.2:c.*762_*764del, NM_001039660.2:c.*762_*764del, XM_017017061.3:c.*762_*764del, XM_017017059.2:c.*762_*764del, XM_024448304.2:c.*762_*764del, XM_024448303.2:c.*762_*764del, XM_017017063.2:c.*762_*764del, XM_047426203.1:c.*762_*764del, XM_047426206.1:c.*762_*764del, XM_047426207.1:c.*762_*764del, XM_047426204.1:c.*762_*764del, XM_047426208.1:c.*762_*764del, XM_047426205.1:c.*762_*764del, NM_173043.1:c.*727_*729del

Select item 148090488710.

rs1480904887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:72002016 (GRCh38)
11:71713062 (GRCh37)
Canonical SPDI:: NC_000011.10:72002015:A:C
Gene:: IL18BP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.001667/1 (NorthernSweden)
HGVS:: NC_000011.10:g.72002016A>C, NC_000011.9:g.71713062A>C, NG_029021.1:g.8105A>C, NM_005699.3:c.*371A>C, NM_173044.3:c.*120A>C, NM_173044.2:c.*120A>C, NM_173042.2:c.*155A>C, NM_001039659.2:c.*155A>C, NM_001039659.1:c.*155A>C, NM_001039660.2:c.*155A>C, NM_001039660.1:c.*155A>C, NM_001145057.1:c.*155A>C, NM_001145055.1:c.*120A>C, XM_017017061.3:c.*155A>C, XM_017017061.2:c.*155A>C, XM_017017061.1:c.*155A>C, XM_017017059.2:c.*155A>C, XM_017017059.1:c.*155A>C, XM_024448304.2:c.*155A>C, XM_024448304.1:c.*155A>C, XM_024448303.2:c.*155A>C, XM_024448303.1:c.*155A>C, XM_017017063.2:c.*155A>C, XM_017017063.1:c.*155A>C, XM_047426203.1:c.*155A>C, XM_047426206.1:c.*155A>C, XM_047426207.1:c.*155A>C, XM_047426204.1:c.*155A>C, XM_047426208.1:c.*155A>C, XM_047426205.1:c.*155A>C, NM_173043.1:c.*120A>C

Select item 148087648311.

rs1480876483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:71999591 (GRCh38)
11:71710637 (GRCh37)
Canonical SPDI:: NC_000011.10:71999590:A:G
Gene:: IL18BP (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.71999591A>G, NC_000011.9:g.71710637A>G, NG_029021.1:g.5680A>G, NM_005699.3:c.-394A>G, NM_173042.2:c.-394A>G, XM_017017061.3:c.-257A>G, XM_017017061.2:c.-257A>G, XM_017017061.1:c.-257A>G, XM_017017059.2:c.-394A>G, XM_017017059.1:c.-394A>G, XM_047426203.1:c.-130A>G, XM_047426204.1:c.-130A>G, NM_173043.1:c.-400A>G

Select item 147996261512.

rs1479962615 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:71999396 (GRCh38)
11:71710443 (GRCh37)
Canonical SPDI:: NC_000011.10:71999396:T:TT
Gene:: IL18BP (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71999397dup, NC_000011.9:g.71710443dup, NG_029021.1:g.5486dup, NM_005699.3:c.-588dup, NM_173042.2:c.-588dup, XM_017017061.3:c.-451dup, XM_017017061.2:c.-451dup, XM_017017061.1:c.-451dup, XM_017017059.2:c.-588dup, XM_017017059.1:c.-588dup, XM_047426203.1:c.-324dup, XM_047426204.1:c.-324dup, NM_173043.1:c.-594dup

Select item 147961239713.

rs1479612397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72001920 (GRCh38)
11:71712966 (GRCh37)
Canonical SPDI:: NC_000011.10:72001919:T:C
Gene:: IL18BP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.72001920T>C, NC_000011.9:g.71712966T>C, NG_029021.1:g.8009T>C, NM_005699.3:c.*275T>C, NM_173044.3:c.*24T>C, NM_173044.2:c.*24T>C, NM_173042.2:c.*59T>C, NM_001039659.2:c.*59T>C, NM_001039659.1:c.*59T>C, NM_001039660.2:c.*59T>C, NM_001039660.1:c.*59T>C, NM_001145057.1:c.*59T>C, NM_001145055.1:c.*24T>C, XM_017017061.3:c.*59T>C, XM_017017061.2:c.*59T>C, XM_017017061.1:c.*59T>C, XM_017017059.2:c.*59T>C, XM_017017059.1:c.*59T>C, XM_024448304.2:c.*59T>C, XM_024448304.1:c.*59T>C, XM_024448303.2:c.*59T>C, XM_024448303.1:c.*59T>C, XM_017017063.2:c.*59T>C, XM_017017063.1:c.*59T>C, XM_047426203.1:c.*59T>C, XM_047426206.1:c.*59T>C, XM_047426207.1:c.*59T>C, XM_047426204.1:c.*59T>C, XM_047426208.1:c.*59T>C, XM_047426205.1:c.*59T>C, NM_173043.1:c.*24T>C

Select item 147949969014.

rs1479499690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72001869 (GRCh38)
11:71712915 (GRCh37)
Canonical SPDI:: NC_000011.10:72001868:C:T
Gene:: IL18BP (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.72001869C>T, NC_000011.9:g.71712915C>T, NG_029021.1:g.7958C>T, NM_005699.3:c.*224C>T, NM_173044.3:c.465C>T, NM_173044.2:c.465C>T, NM_173042.2:c.*8C>T, NM_001039659.2:c.*8C>T, NM_001039659.1:c.*8C>T, NM_001039660.2:c.*8C>T, NM_001039660.1:c.*8C>T, NM_001145057.1:c.*8C>T, NM_001145055.1:c.321C>T, XM_017017061.3:c.*8C>T, XM_017017061.2:c.*8C>T, XM_017017061.1:c.*8C>T, XM_017017059.2:c.*8C>T, XM_017017059.1:c.*8C>T, XM_024448304.2:c.*8C>T, XM_024448304.1:c.*8C>T, XM_024448303.2:c.*8C>T, XM_024448303.1:c.*8C>T, XM_017017063.2:c.*8C>T, XM_017017063.1:c.*8C>T, XM_047426203.1:c.*8C>T, XM_047426206.1:c.*8C>T, XM_047426207.1:c.*8C>T, XM_047426204.1:c.*8C>T, XM_047426208.1:c.*8C>T, XM_047426205.1:c.*8C>T, NM_173043.1:c.315C>T

Select item 147879020615.

rs1478790206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:72001544 (GRCh38)
11:71712590 (GRCh37)
Canonical SPDI:: NC_000011.10:72001543:C:A,NC_000011.10:72001543:C:G
Gene:: IL18BP (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.72001544C>A, NC_000011.10:g.72001544C>G, NC_000011.9:g.71712590C>A, NC_000011.9:g.71712590C>G, NG_029021.1:g.7633C>A, NG_029021.1:g.7633C>G, NM_005699.3:c.499C>A, NM_005699.3:c.499C>G, NM_173042.2:c.499C>A, NM_173042.2:c.499C>G, NM_001039659.2:c.499C>A, NM_001039659.2:c.499C>G, NM_001039659.1:c.499C>A, NM_001039659.1:c.499C>G, NM_001039660.2:c.499C>A, NM_001039660.2:c.499C>G, NM_001039660.1:c.499C>A, NM_001039660.1:c.499C>G, NM_001145057.1:c.499C>A, NM_001145057.1:c.499C>G, XM_017017061.3:c.499C>A, XM_017017061.3:c.499C>G, XM_017017061.2:c.499C>A, XM_017017061.2:c.499C>G, XM_017017061.1:c.499C>A, XM_017017061.1:c.499C>G, XM_017017059.2:c.499C>A, XM_017017059.2:c.499C>G, XM_017017059.1:c.499C>A, XM_017017059.1:c.499C>G, XM_024448304.2:c.499C>A, XM_024448304.2:c.499C>G, XM_024448304.1:c.499C>A, XM_024448304.1:c.499C>G, XM_024448303.2:c.499C>A, XM_024448303.2:c.499C>G, XM_024448303.1:c.499C>A, XM_024448303.1:c.499C>G, XM_017017063.2:c.499C>A, XM_017017063.2:c.499C>G, XM_017017063.1:c.499C>A, XM_017017063.1:c.499C>G, XM_047426203.1:c.499C>A, XM_047426203.1:c.499C>G, XM_047426206.1:c.499C>A, XM_047426206.1:c.499C>G, XM_047426207.1:c.499C>A, XM_047426207.1:c.499C>G, XM_047426204.1:c.499C>A, XM_047426204.1:c.499C>G, XM_047426208.1:c.499C>A, XM_047426208.1:c.499C>G, XM_047426205.1:c.499C>A, XM_047426205.1:c.499C>G, NP_005690.2:p.Gln167Lys, NP_005690.2:p.Gln167Glu, NP_766630.2:p.Gln167Lys, NP_766630.2:p.Gln167Glu, NP_001034748.1:p.Gln167Lys, NP_001034748.1:p.Gln167Glu, NP_001034749.1:p.Gln167Lys, NP_001034749.1:p.Gln167Glu, NP_001138529.1:p.Gln167Lys, NP_001138529.1:p.Gln167Glu, XP_016872550.1:p.Gln167Lys, XP_016872550.1:p.Gln167Glu, XP_016872548.1:p.Gln167Lys, XP_016872548.1:p.Gln167Glu, XP_024304072.1:p.Gln167Lys, XP_024304072.1:p.Gln167Glu, XP_024304071.1:p.Gln167Lys, XP_024304071.1:p.Gln167Glu, XP_016872552.1:p.Gln167Lys, XP_016872552.1:p.Gln167Glu, XP_047282159.1:p.Gln167Lys, XP_047282159.1:p.Gln167Glu, XP_047282162.1:p.Gln167Lys, XP_047282162.1:p.Gln167Glu, XP_047282163.1:p.Gln167Lys, XP_047282163.1:p.Gln167Glu, XP_047282160.1:p.Gln167Lys, XP_047282160.1:p.Gln167Glu, XP_047282164.1:p.Gln167Lys, XP_047282164.1:p.Gln167Glu, XP_047282161.1:p.Gln167Lys, XP_047282161.1:p.Gln167Glu

Select item 147874074916.

rs1478740749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72001929 (GRCh38)
11:71712975 (GRCh37)
Canonical SPDI:: NC_000011.10:72001928:T:C
Gene:: IL18BP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72001929T>C, NC_000011.9:g.71712975T>C, NG_029021.1:g.8018T>C, NM_005699.3:c.*284T>C, NM_173044.3:c.*33T>C, NM_173044.2:c.*33T>C, NM_173042.2:c.*68T>C, NM_001039659.2:c.*68T>C, NM_001039659.1:c.*68T>C, NM_001039660.2:c.*68T>C, NM_001039660.1:c.*68T>C, NM_001145057.1:c.*68T>C, NM_001145055.1:c.*33T>C, XM_017017061.3:c.*68T>C, XM_017017061.2:c.*68T>C, XM_017017061.1:c.*68T>C, XM_017017059.2:c.*68T>C, XM_017017059.1:c.*68T>C, XM_024448304.2:c.*68T>C, XM_024448304.1:c.*68T>C, XM_024448303.2:c.*68T>C, XM_024448303.1:c.*68T>C, XM_017017063.2:c.*68T>C, XM_017017063.1:c.*68T>C, XM_047426203.1:c.*68T>C, XM_047426206.1:c.*68T>C, XM_047426207.1:c.*68T>C, XM_047426204.1:c.*68T>C, XM_047426208.1:c.*68T>C, XM_047426205.1:c.*68T>C, NM_173043.1:c.*33T>C

Select item 147797526017.

rs1477975260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72001603 (GRCh38)
11:71712649 (GRCh37)
Canonical SPDI:: NC_000011.10:72001602:T:C
Gene:: IL18BP (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.72001603T>C, NC_000011.9:g.71712649T>C, NG_029021.1:g.7692T>C, NM_005699.3:c.558T>C

Select item 147776753218.

rs1477767532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:71999467 (GRCh38)
11:71710513 (GRCh37)
Canonical SPDI:: NC_000011.10:71999466:C:A
Gene:: IL18BP (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71999467C>A, NC_000011.9:g.71710513C>A, NG_029021.1:g.5556C>A, NM_005699.3:c.-518C>A, NM_173042.2:c.-518C>A, XM_017017061.3:c.-381C>A, XM_017017061.2:c.-381C>A, XM_017017061.1:c.-381C>A, XM_017017059.2:c.-518C>A, XM_017017059.1:c.-518C>A, XM_047426203.1:c.-254C>A, XM_047426204.1:c.-254C>A, NM_173043.1:c.-524C>A

Select item 147739039119.

rs1477390391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:72002197 (GRCh38)
11:71713243 (GRCh37)
Canonical SPDI:: NC_000011.10:72002196:T:A
Gene:: IL18BP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72002197T>A, NC_000011.9:g.71713243T>A, NG_029021.1:g.8286T>A, NM_005699.3:c.*552T>A, NM_173044.3:c.*301T>A, NM_173044.2:c.*301T>A, NM_173042.2:c.*336T>A, NM_001039659.2:c.*336T>A, NM_001039659.1:c.*336T>A, NM_001039660.2:c.*336T>A, NM_001039660.1:c.*336T>A, NM_001145057.1:c.*336T>A, NM_001145055.1:c.*301T>A, XM_017017061.3:c.*336T>A, XM_017017061.2:c.*336T>A, XM_017017061.1:c.*336T>A, XM_017017059.2:c.*336T>A, XM_017017059.1:c.*336T>A, XM_024448304.2:c.*336T>A, XM_024448304.1:c.*336T>A, XM_024448303.2:c.*336T>A, XM_024448303.1:c.*336T>A, XM_017017063.2:c.*336T>A, XM_017017063.1:c.*336T>A, XM_047426203.1:c.*336T>A, XM_047426206.1:c.*336T>A, XM_047426207.1:c.*336T>A, XM_047426204.1:c.*336T>A, XM_047426208.1:c.*336T>A, XM_047426205.1:c.*336T>A, NM_173043.1:c.*301T>A

Select item 147585945520.

rs1475859455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:72002603 (GRCh38)
11:71713649 (GRCh37)
Canonical SPDI:: NC_000011.10:72002602:A:C
Gene:: NUMA1 (Varview), IL18BP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.72002603A>C, NC_000011.9:g.71713649A>C, NG_029021.1:g.8692A>C, NM_005699.3:c.*958A>C, NM_173044.3:c.*707A>C, NM_173044.2:c.*707A>C, NM_001039659.2:c.*742A>C, NM_001039660.2:c.*742A>C, XM_017017061.3:c.*742A>C, XM_017017059.2:c.*742A>C, XM_024448304.2:c.*742A>C, XM_024448303.2:c.*742A>C, XM_017017063.2:c.*742A>C, XM_047426203.1:c.*742A>C, XM_047426206.1:c.*742A>C, XM_047426207.1:c.*742A>C, XM_047426204.1:c.*742A>C, XM_047426208.1:c.*742A>C, XM_047426205.1:c.*742A>C, NM_173043.1:c.*707A>C

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