SNP Links for Nucleotide (Select 385862217) - SNP

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Select item 14913045301.

rs1491304530 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:40292653 (GRCh38)
11:40314203 (GRCh37)
Canonical SPDI:: NC_000011.10:40292652:TG:
Gene:: LRRC4C (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000072/19 (TOPMED)
-=0.000129/10 (GnomAD)
HGVS:: NC_000011.10:g.40292653_40292654del, NC_000011.9:g.40314203_40314204del, XM_011520241.4:c.-637_-636del, XM_011520241.3:c.-637_-636del, XM_011520241.2:c.-637_-636del, XM_011520241.1:c.-637_-636del, XM_011520242.4:c.-623_-622del, XM_011520242.3:c.-623_-622del, XM_011520242.2:c.-623_-622del, XM_011520242.1:c.-623_-622del, XM_017018078.3:c.-703_-702del, XM_017018078.2:c.-703_-702del, XM_017018078.1:c.-703_-702del, XM_017018074.3:c.-618_-617del, XM_017018074.2:c.-618_-617del, XM_017018074.1:c.-618_-617del, XM_017018076.3:c.-584_-583del, XM_017018076.2:c.-584_-583del, XM_017018076.1:c.-584_-583del, NR_047673.1:n.477_478del, NR_047674.1:n.477_478del

Select item 14905039142.

rs1490503914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:40292624 (GRCh38)
11:40314174 (GRCh37)
Canonical SPDI:: NC_000011.10:40292623:G:A
Gene:: LRRC4C (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000042/5 (GnomAD)
HGVS:: NC_000011.10:g.40292624G>A, NC_000011.9:g.40314174G>A, XM_011520241.4:c.-607C>T, XM_011520241.3:c.-607C>T, XM_011520241.2:c.-607C>T, XM_011520241.1:c.-607C>T, XM_011520242.4:c.-593C>T, XM_011520242.3:c.-593C>T, XM_011520242.2:c.-593C>T, XM_011520242.1:c.-593C>T, XM_017018078.3:c.-673C>T, XM_017018078.2:c.-673C>T, XM_017018078.1:c.-673C>T, XM_017018074.3:c.-588C>T, XM_017018074.2:c.-588C>T, XM_017018074.1:c.-588C>T, XM_017018076.3:c.-554C>T, XM_017018076.2:c.-554C>T, XM_017018076.1:c.-554C>T, NR_047673.1:n.507C>T, NR_047674.1:n.507C>T

Select item 14901785223.

rs1490178522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:40116004 (GRCh38)
11:40137554 (GRCh37)
Canonical SPDI:: NC_000011.10:40116003:T:G
Gene:: LRRC4C (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.40116004T>G, NC_000011.9:g.40137554T>G, XM_011520241.4:c.289A>C, XM_011520241.3:c.289A>C, XM_011520241.2:c.289A>C, XM_011520241.1:c.289A>C, XM_011520242.4:c.289A>C, XM_011520242.3:c.289A>C, XM_011520242.2:c.289A>C, XM_011520242.1:c.289A>C, XM_011520239.4:c.289A>C, XM_011520239.3:c.289A>C, XM_011520239.2:c.289A>C, XM_011520239.1:c.289A>C, XM_011520238.4:c.289A>C, XM_011520238.3:c.289A>C, XM_011520238.2:c.289A>C, XM_011520238.1:c.289A>C, XM_011520243.4:c.289A>C, XM_011520243.3:c.289A>C, XM_011520243.2:c.289A>C, XM_011520243.1:c.289A>C, XM_011520240.4:c.289A>C, XM_011520240.3:c.289A>C, XM_011520240.2:c.289A>C, XM_011520240.1:c.289A>C, XM_011520244.4:c.289A>C, XM_011520244.3:c.289A>C, XM_011520244.2:c.289A>C, XM_011520244.1:c.289A>C, XM_017018078.3:c.289A>C, XM_017018078.2:c.289A>C, XM_017018078.1:c.289A>C, XM_017018074.3:c.289A>C, XM_017018074.2:c.289A>C, XM_017018074.1:c.289A>C, XM_017018076.3:c.289A>C, XM_017018076.2:c.289A>C, XM_017018076.1:c.289A>C, XM_017018070.3:c.289A>C, XM_017018070.2:c.289A>C, XM_017018070.1:c.289A>C, XM_017018071.3:c.289A>C, XM_017018071.2:c.289A>C, XM_017018071.1:c.289A>C, XM_017018079.3:c.289A>C, XM_017018079.2:c.289A>C, XM_017018079.1:c.289A>C, XM_017018072.3:c.289A>C, XM_017018072.2:c.289A>C, XM_017018072.1:c.289A>C, XM_017018077.3:c.289A>C, XM_017018077.2:c.289A>C, XM_017018077.1:c.289A>C, XM_017018073.3:c.289A>C, XM_017018073.2:c.289A>C, XM_017018073.1:c.289A>C, XM_017018075.3:c.289A>C, XM_017018075.2:c.289A>C, XM_017018075.1:c.289A>C, NM_020929.3:c.289A>C, NM_020929.2:c.289A>C, NM_001258419.2:c.289A>C, NM_001258419.1:c.289A>C, XM_047427351.1:c.289A>C, XM_047427350.1:c.289A>C, NR_047673.1:n.1322A>C, XM_047427349.1:c.289A>C, NR_047674.1:n.1269A>C, XM_047427352.1:c.289A>C, XP_011518543.1:p.Lys97Gln, XP_011518544.1:p.Lys97Gln, XP_011518541.1:p.Lys97Gln, XP_011518540.1:p.Lys97Gln, XP_011518545.1:p.Lys97Gln, XP_011518542.1:p.Lys97Gln, XP_011518546.1:p.Lys97Gln, XP_016873567.1:p.Lys97Gln, XP_016873563.1:p.Lys97Gln, XP_016873565.1:p.Lys97Gln, XP_016873559.1:p.Lys97Gln, XP_016873560.1:p.Lys97Gln, XP_016873568.1:p.Lys97Gln, XP_016873561.1:p.Lys97Gln, XP_016873566.1:p.Lys97Gln, XP_016873562.1:p.Lys97Gln, XP_016873564.1:p.Lys97Gln, NP_065980.1:p.Lys97Gln, NP_001245348.1:p.Lys97Gln, XP_047283307.1:p.Lys97Gln, XP_047283306.1:p.Lys97Gln, XP_047283305.1:p.Lys97Gln, XP_047283308.1:p.Lys97Gln

Select item 14893167124.

rs1489316712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:40114611 (GRCh38)
11:40136161 (GRCh37)
Canonical SPDI:: NC_000011.10:40114610:G:T
Gene:: LRRC4C (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.40114611G>T, NC_000011.9:g.40136161G>T, XM_011520241.4:c.1682C>A, XM_011520241.3:c.1682C>A, XM_011520241.2:c.1682C>A, XM_011520241.1:c.1682C>A, XM_011520242.4:c.1682C>A, XM_011520242.3:c.1682C>A, XM_011520242.2:c.1682C>A, XM_011520242.1:c.1682C>A, XM_011520239.4:c.1682C>A, XM_011520239.3:c.1682C>A, XM_011520239.2:c.1682C>A, XM_011520239.1:c.1682C>A, XM_011520238.4:c.1682C>A, XM_011520238.3:c.1682C>A, XM_011520238.2:c.1682C>A, XM_011520238.1:c.1682C>A, XM_011520243.4:c.1682C>A, XM_011520243.3:c.1682C>A, XM_011520243.2:c.1682C>A, XM_011520243.1:c.1682C>A, XM_011520240.4:c.1682C>A, XM_011520240.3:c.1682C>A, XM_011520240.2:c.1682C>A, XM_011520240.1:c.1682C>A, XM_011520244.4:c.1682C>A, XM_011520244.3:c.1682C>A, XM_011520244.2:c.1682C>A, XM_011520244.1:c.1682C>A, XM_017018078.3:c.1682C>A, XM_017018078.2:c.1682C>A, XM_017018078.1:c.1682C>A, XM_017018074.3:c.1682C>A, XM_017018074.2:c.1682C>A, XM_017018074.1:c.1682C>A, XM_017018076.3:c.1682C>A, XM_017018076.2:c.1682C>A, XM_017018076.1:c.1682C>A, XM_017018070.3:c.1682C>A, XM_017018070.2:c.1682C>A, XM_017018070.1:c.1682C>A, XM_017018071.3:c.1682C>A, XM_017018071.2:c.1682C>A, XM_017018071.1:c.1682C>A, XM_017018079.3:c.1682C>A, XM_017018079.2:c.1682C>A, XM_017018079.1:c.1682C>A, XM_017018072.3:c.1682C>A, XM_017018072.2:c.1682C>A, XM_017018072.1:c.1682C>A, XM_017018077.3:c.1682C>A, XM_017018077.2:c.1682C>A, XM_017018077.1:c.1682C>A, XM_017018073.3:c.1682C>A, XM_017018073.2:c.1682C>A, XM_017018073.1:c.1682C>A, XM_017018075.3:c.1682C>A, XM_017018075.2:c.1682C>A, XM_017018075.1:c.1682C>A, NM_020929.3:c.1682C>A, NM_020929.2:c.1682C>A, NM_001258419.2:c.1682C>A, NM_001258419.1:c.1682C>A, XM_047427351.1:c.1682C>A, XM_047427350.1:c.1682C>A, NR_047673.1:n.2715C>A, XM_047427349.1:c.1682C>A, NR_047674.1:n.2662C>A, XM_047427352.1:c.1682C>A, XP_011518543.1:p.Ala561Asp, XP_011518544.1:p.Ala561Asp, XP_011518541.1:p.Ala561Asp, XP_011518540.1:p.Ala561Asp, XP_011518545.1:p.Ala561Asp, XP_011518542.1:p.Ala561Asp, XP_011518546.1:p.Ala561Asp, XP_016873567.1:p.Ala561Asp, XP_016873563.1:p.Ala561Asp, XP_016873565.1:p.Ala561Asp, XP_016873559.1:p.Ala561Asp, XP_016873560.1:p.Ala561Asp, XP_016873568.1:p.Ala561Asp, XP_016873561.1:p.Ala561Asp, XP_016873566.1:p.Ala561Asp, XP_016873562.1:p.Ala561Asp, XP_016873564.1:p.Ala561Asp, NP_065980.1:p.Ala561Asp, NP_001245348.1:p.Ala561Asp, XP_047283307.1:p.Ala561Asp, XP_047283306.1:p.Ala561Asp, XP_047283305.1:p.Ala561Asp, XP_047283308.1:p.Ala561Asp

Select item 14882389845.

rs1488238984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:40292996 (GRCh38)
11:40314546 (GRCh37)
Canonical SPDI:: NC_000011.10:40292995:C:A
Gene:: LRRC4C (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.40292996C>A, NC_000011.9:g.40314546C>A, XM_011520241.4:c.-979G>T, XM_011520241.3:c.-979G>T, XM_011520241.2:c.-979G>T, XM_011520241.1:c.-979G>T, XM_011520242.4:c.-965G>T, XM_011520242.3:c.-965G>T, XM_011520242.2:c.-965G>T, XM_011520242.1:c.-965G>T, XM_017018078.3:c.-1045G>T, XM_017018078.2:c.-1045G>T, XM_017018078.1:c.-1045G>T, XM_017018074.3:c.-960G>T, XM_017018074.2:c.-960G>T, XM_017018074.1:c.-960G>T, XM_017018076.3:c.-926G>T, XM_017018076.2:c.-926G>T, XM_017018076.1:c.-926G>T, NR_047673.1:n.135G>T, NR_047674.1:n.135G>T

Select item 14856850136.

rs1485685013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:40114578 (GRCh38)
11:40136128 (GRCh37)
Canonical SPDI:: NC_000011.10:40114577:T:G
Gene:: LRRC4C (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.40114578T>G, NC_000011.9:g.40136128T>G, XM_011520241.4:c.1715A>C, XM_011520241.3:c.1715A>C, XM_011520241.2:c.1715A>C, XM_011520241.1:c.1715A>C, XM_011520242.4:c.1715A>C, XM_011520242.3:c.1715A>C, XM_011520242.2:c.1715A>C, XM_011520242.1:c.1715A>C, XM_011520239.4:c.1715A>C, XM_011520239.3:c.1715A>C, XM_011520239.2:c.1715A>C, XM_011520239.1:c.1715A>C, XM_011520238.4:c.1715A>C, XM_011520238.3:c.1715A>C, XM_011520238.2:c.1715A>C, XM_011520238.1:c.1715A>C, XM_011520243.4:c.1715A>C, XM_011520243.3:c.1715A>C, XM_011520243.2:c.1715A>C, XM_011520243.1:c.1715A>C, XM_011520240.4:c.1715A>C, XM_011520240.3:c.1715A>C, XM_011520240.2:c.1715A>C, XM_011520240.1:c.1715A>C, XM_011520244.4:c.1715A>C, XM_011520244.3:c.1715A>C, XM_011520244.2:c.1715A>C, XM_011520244.1:c.1715A>C, XM_017018078.3:c.1715A>C, XM_017018078.2:c.1715A>C, XM_017018078.1:c.1715A>C, XM_017018074.3:c.1715A>C, XM_017018074.2:c.1715A>C, XM_017018074.1:c.1715A>C, XM_017018076.3:c.1715A>C, XM_017018076.2:c.1715A>C, XM_017018076.1:c.1715A>C, XM_017018070.3:c.1715A>C, XM_017018070.2:c.1715A>C, XM_017018070.1:c.1715A>C, XM_017018071.3:c.1715A>C, XM_017018071.2:c.1715A>C, XM_017018071.1:c.1715A>C, XM_017018079.3:c.1715A>C, XM_017018079.2:c.1715A>C, XM_017018079.1:c.1715A>C, XM_017018072.3:c.1715A>C, XM_017018072.2:c.1715A>C, XM_017018072.1:c.1715A>C, XM_017018077.3:c.1715A>C, XM_017018077.2:c.1715A>C, XM_017018077.1:c.1715A>C, XM_017018073.3:c.1715A>C, XM_017018073.2:c.1715A>C, XM_017018073.1:c.1715A>C, XM_017018075.3:c.1715A>C, XM_017018075.2:c.1715A>C, XM_017018075.1:c.1715A>C, NM_020929.3:c.1715A>C, NM_020929.2:c.1715A>C, NM_001258419.2:c.1715A>C, NM_001258419.1:c.1715A>C, XM_047427351.1:c.1715A>C, XM_047427350.1:c.1715A>C, NR_047673.1:n.2748A>C, XM_047427349.1:c.1715A>C, NR_047674.1:n.2695A>C, XM_047427352.1:c.1715A>C, XP_011518543.1:p.Asp572Ala, XP_011518544.1:p.Asp572Ala, XP_011518541.1:p.Asp572Ala, XP_011518540.1:p.Asp572Ala, XP_011518545.1:p.Asp572Ala, XP_011518542.1:p.Asp572Ala, XP_011518546.1:p.Asp572Ala, XP_016873567.1:p.Asp572Ala, XP_016873563.1:p.Asp572Ala, XP_016873565.1:p.Asp572Ala, XP_016873559.1:p.Asp572Ala, XP_016873560.1:p.Asp572Ala, XP_016873568.1:p.Asp572Ala, XP_016873561.1:p.Asp572Ala, XP_016873566.1:p.Asp572Ala, XP_016873562.1:p.Asp572Ala, XP_016873564.1:p.Asp572Ala, NP_065980.1:p.Asp572Ala, NP_001245348.1:p.Asp572Ala, XP_047283307.1:p.Asp572Ala, XP_047283306.1:p.Asp572Ala, XP_047283305.1:p.Asp572Ala, XP_047283308.1:p.Asp572Ala

Select item 14854310477.

rs1485431047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:40292603 (GRCh38)
11:40314153 (GRCh37)
Canonical SPDI:: NC_000011.10:40292602:C:A,NC_000011.10:40292602:C:T
Gene:: LRRC4C (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000009/1 (GnomAD)
HGVS:: NC_000011.10:g.40292603C>A, NC_000011.10:g.40292603C>T, NC_000011.9:g.40314153C>A, NC_000011.9:g.40314153C>T, XM_011520241.4:c.-586G>T, XM_011520241.4:c.-586G>A, XM_011520241.3:c.-586G>T, XM_011520241.3:c.-586G>A, XM_011520241.2:c.-586G>T, XM_011520241.2:c.-586G>A, XM_011520241.1:c.-586G>T, XM_011520241.1:c.-586G>A, XM_011520242.4:c.-572G>T, XM_011520242.4:c.-572G>A, XM_011520242.3:c.-572G>T, XM_011520242.3:c.-572G>A, XM_011520242.2:c.-572G>T, XM_011520242.2:c.-572G>A, XM_011520242.1:c.-572G>T, XM_011520242.1:c.-572G>A, XM_017018078.3:c.-652G>T, XM_017018078.3:c.-652G>A, XM_017018078.2:c.-652G>T, XM_017018078.2:c.-652G>A, XM_017018078.1:c.-652G>T, XM_017018078.1:c.-652G>A, XM_017018074.3:c.-567G>T, XM_017018074.3:c.-567G>A, XM_017018074.2:c.-567G>T, XM_017018074.2:c.-567G>A, XM_017018074.1:c.-567G>T, XM_017018074.1:c.-567G>A, XM_017018076.3:c.-533G>T, XM_017018076.3:c.-533G>A, XM_017018076.2:c.-533G>T, XM_017018076.2:c.-533G>A, XM_017018076.1:c.-533G>T, XM_017018076.1:c.-533G>A, NR_047673.1:n.528G>T, NR_047673.1:n.528G>A, NR_047674.1:n.528G>T, NR_047674.1:n.528G>A

Select item 14820949958.

rs1482094995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:40292304 (GRCh38)
11:40313854 (GRCh37)
Canonical SPDI:: NC_000011.10:40292303:T:C
Gene:: LRRC4C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000142/2 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000011.10:g.40292304T>C, NC_000011.9:g.40313854T>C, XM_011520241.4:c.-287A>G, XM_011520241.3:c.-287A>G, XM_011520241.2:c.-287A>G, XM_011520241.1:c.-287A>G, XM_011520242.4:c.-273A>G, XM_011520242.3:c.-273A>G, XM_011520242.2:c.-273A>G, XM_011520242.1:c.-273A>G, XM_017018078.3:c.-353A>G, XM_017018078.2:c.-353A>G, XM_017018078.1:c.-353A>G, XM_017018074.3:c.-268A>G, XM_017018074.2:c.-268A>G, XM_017018074.1:c.-268A>G, XM_017018076.3:c.-234A>G, XM_017018076.2:c.-234A>G, XM_017018076.1:c.-234A>G, NR_047673.1:n.827A>G, NR_047674.1:n.827A>G

Select item 14816662519.

rs1481666251 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 11:40292844 (GRCh38)
11:40314395 (GRCh37)
Canonical SPDI:: NC_000011.10:40292844::AAT
Gene:: LRRC4C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: AAT=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.40292844_40292845insAAT, NC_000011.9:g.40314394_40314395insAAT, XM_011520241.4:c.-828_-827insATT, XM_011520241.3:c.-828_-827insATT, XM_011520241.2:c.-828_-827insATT, XM_011520241.1:c.-828_-827insATT, XM_011520242.4:c.-814_-813insATT, XM_011520242.3:c.-814_-813insATT, XM_011520242.2:c.-814_-813insATT, XM_011520242.1:c.-814_-813insATT, XM_017018078.3:c.-894_-893insATT, XM_017018078.2:c.-894_-893insATT, XM_017018078.1:c.-894_-893insATT, XM_017018074.3:c.-809_-808insATT, XM_017018074.2:c.-809_-808insATT, XM_017018074.1:c.-809_-808insATT, XM_017018076.3:c.-775_-774insATT, XM_017018076.2:c.-775_-774insATT, XM_017018076.1:c.-775_-774insATT, NR_047673.1:n.286_287insATT, NR_047674.1:n.286_287insATT

Select item 147828977810.

rs1478289778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:40292748 (GRCh38)
11:40314298 (GRCh37)
Canonical SPDI:: NC_000011.10:40292747:A:G
Gene:: LRRC4C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.40292748A>G, NC_000011.9:g.40314298A>G, XM_011520241.4:c.-731T>C, XM_011520241.3:c.-731T>C, XM_011520241.2:c.-731T>C, XM_011520241.1:c.-731T>C, XM_011520242.4:c.-717T>C, XM_011520242.3:c.-717T>C, XM_011520242.2:c.-717T>C, XM_011520242.1:c.-717T>C, XM_017018078.3:c.-797T>C, XM_017018078.2:c.-797T>C, XM_017018078.1:c.-797T>C, XM_017018074.3:c.-712T>C, XM_017018074.2:c.-712T>C, XM_017018074.1:c.-712T>C, XM_017018076.3:c.-678T>C, XM_017018076.2:c.-678T>C, XM_017018076.1:c.-678T>C, NR_047673.1:n.383T>C, NR_047674.1:n.383T>C

Select item 147791924911.

rs1477919249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:40292252 (GRCh38)
11:40313802 (GRCh37)
Canonical SPDI:: NC_000011.10:40292251:G:A
Gene:: LRRC4C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_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_000011.10:g.40292252G>A, NC_000011.9:g.40313802G>A, XM_011520241.4:c.-235C>T, XM_011520241.3:c.-235C>T, XM_011520241.2:c.-235C>T, XM_011520241.1:c.-235C>T, XM_011520242.4:c.-221C>T, XM_011520242.3:c.-221C>T, XM_011520242.2:c.-221C>T, XM_011520242.1:c.-221C>T, XM_017018078.3:c.-301C>T, XM_017018078.2:c.-301C>T, XM_017018078.1:c.-301C>T, XM_017018074.3:c.-216C>T, XM_017018074.2:c.-216C>T, XM_017018074.1:c.-216C>T, XM_017018076.3:c.-182C>T, XM_017018076.2:c.-182C>T, XM_017018076.1:c.-182C>T, NR_047673.1:n.879C>T, NR_047674.1:n.879C>T

Select item 147712769212.

rs1477127692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:40114534 (GRCh38)
11:40136084 (GRCh37)
Canonical SPDI:: NC_000011.10:40114533:T:A,NC_000011.10:40114533:T:C
Gene:: LRRC4C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.40114534T>A, NC_000011.10:g.40114534T>C, NC_000011.9:g.40136084T>A, NC_000011.9:g.40136084T>C, XM_011520241.4:c.1759A>T, XM_011520241.4:c.1759A>G, XM_011520241.3:c.1759A>T, XM_011520241.3:c.1759A>G, XM_011520241.2:c.1759A>T, XM_011520241.2:c.1759A>G, XM_011520241.1:c.1759A>T, XM_011520241.1:c.1759A>G, XM_011520242.4:c.1759A>T, XM_011520242.4:c.1759A>G, XM_011520242.3:c.1759A>T, XM_011520242.3:c.1759A>G, XM_011520242.2:c.1759A>T, XM_011520242.2:c.1759A>G, XM_011520242.1:c.1759A>T, XM_011520242.1:c.1759A>G, XM_011520239.4:c.1759A>T, XM_011520239.4:c.1759A>G, XM_011520239.3:c.1759A>T, XM_011520239.3:c.1759A>G, XM_011520239.2:c.1759A>T, XM_011520239.2:c.1759A>G, XM_011520239.1:c.1759A>T, XM_011520239.1:c.1759A>G, XM_011520238.4:c.1759A>T, XM_011520238.4:c.1759A>G, XM_011520238.3:c.1759A>T, XM_011520238.3:c.1759A>G, XM_011520238.2:c.1759A>T, XM_011520238.2:c.1759A>G, XM_011520238.1:c.1759A>T, XM_011520238.1:c.1759A>G, XM_011520243.4:c.1759A>T, XM_011520243.4:c.1759A>G, XM_011520243.3:c.1759A>T, XM_011520243.3:c.1759A>G, XM_011520243.2:c.1759A>T, XM_011520243.2:c.1759A>G, XM_011520243.1:c.1759A>T, XM_011520243.1:c.1759A>G, XM_011520240.4:c.1759A>T, XM_011520240.4:c.1759A>G, XM_011520240.3:c.1759A>T, XM_011520240.3:c.1759A>G, XM_011520240.2:c.1759A>T, XM_011520240.2:c.1759A>G, XM_011520240.1:c.1759A>T, XM_011520240.1:c.1759A>G, XM_011520244.4:c.1759A>T, XM_011520244.4:c.1759A>G, XM_011520244.3:c.1759A>T, XM_011520244.3:c.1759A>G, XM_011520244.2:c.1759A>T, XM_011520244.2:c.1759A>G, XM_011520244.1:c.1759A>T, XM_011520244.1:c.1759A>G, XM_017018078.3:c.1759A>T, XM_017018078.3:c.1759A>G, XM_017018078.2:c.1759A>T, XM_017018078.2:c.1759A>G, XM_017018078.1:c.1759A>T, XM_017018078.1:c.1759A>G, XM_017018074.3:c.1759A>T, XM_017018074.3:c.1759A>G, XM_017018074.2:c.1759A>T, XM_017018074.2:c.1759A>G, XM_017018074.1:c.1759A>T, XM_017018074.1:c.1759A>G, XM_017018076.3:c.1759A>T, XM_017018076.3:c.1759A>G, XM_017018076.2:c.1759A>T, XM_017018076.2:c.1759A>G, XM_017018076.1:c.1759A>T, XM_017018076.1:c.1759A>G, XM_017018070.3:c.1759A>T, XM_017018070.3:c.1759A>G, XM_017018070.2:c.1759A>T, XM_017018070.2:c.1759A>G, XM_017018070.1:c.1759A>T, XM_017018070.1:c.1759A>G, XM_017018071.3:c.1759A>T, XM_017018071.3:c.1759A>G, XM_017018071.2:c.1759A>T, XM_017018071.2:c.1759A>G, XM_017018071.1:c.1759A>T, XM_017018071.1:c.1759A>G, XM_017018079.3:c.1759A>T, XM_017018079.3:c.1759A>G, XM_017018079.2:c.1759A>T, XM_017018079.2:c.1759A>G, XM_017018079.1:c.1759A>T, XM_017018079.1:c.1759A>G, XM_017018072.3:c.1759A>T, XM_017018072.3:c.1759A>G, XM_017018072.2:c.1759A>T, XM_017018072.2:c.1759A>G, XM_017018072.1:c.1759A>T, XM_017018072.1:c.1759A>G, XM_017018077.3:c.1759A>T, XM_017018077.3:c.1759A>G, XM_017018077.2:c.1759A>T, XM_017018077.2:c.1759A>G, XM_017018077.1:c.1759A>T, XM_017018077.1:c.1759A>G, XM_017018073.3:c.1759A>T, XM_017018073.3:c.1759A>G, XM_017018073.2:c.1759A>T, XM_017018073.2:c.1759A>G, XM_017018073.1:c.1759A>T, XM_017018073.1:c.1759A>G, XM_017018075.3:c.1759A>T, XM_017018075.3:c.1759A>G, XM_017018075.2:c.1759A>T, XM_017018075.2:c.1759A>G, XM_017018075.1:c.1759A>T, XM_017018075.1:c.1759A>G, NM_020929.3:c.1759A>T, NM_020929.3:c.1759A>G, NM_020929.2:c.1759A>T, NM_020929.2:c.1759A>G, NM_001258419.2:c.1759A>T, NM_001258419.2:c.1759A>G, NM_001258419.1:c.1759A>T, NM_001258419.1:c.1759A>G, XM_047427351.1:c.1759A>T, XM_047427351.1:c.1759A>G, XM_047427350.1:c.1759A>T, XM_047427350.1:c.1759A>G, NR_047673.1:n.2792A>T, NR_047673.1:n.2792A>G, XM_047427349.1:c.1759A>T, XM_047427349.1:c.1759A>G, NR_047674.1:n.2739A>T, NR_047674.1:n.2739A>G, XM_047427352.1:c.1759A>T, XM_047427352.1:c.1759A>G, XP_011518543.1:p.Met587Leu, XP_011518543.1:p.Met587Val, XP_011518544.1:p.Met587Leu, XP_011518544.1:p.Met587Val, XP_011518541.1:p.Met587Leu, XP_011518541.1:p.Met587Val, XP_011518540.1:p.Met587Leu, XP_011518540.1:p.Met587Val, XP_011518545.1:p.Met587Leu, XP_011518545.1:p.Met587Val, XP_011518542.1:p.Met587Leu, XP_011518542.1:p.Met587Val, XP_011518546.1:p.Met587Leu, XP_011518546.1:p.Met587Val, XP_016873567.1:p.Met587Leu, XP_016873567.1:p.Met587Val, XP_016873563.1:p.Met587Leu, XP_016873563.1:p.Met587Val, XP_016873565.1:p.Met587Leu, XP_016873565.1:p.Met587Val, XP_016873559.1:p.Met587Leu, XP_016873559.1:p.Met587Val, XP_016873560.1:p.Met587Leu, XP_016873560.1:p.Met587Val, XP_016873568.1:p.Met587Leu, XP_016873568.1:p.Met587Val, XP_016873561.1:p.Met587Leu, XP_016873561.1:p.Met587Val, XP_016873566.1:p.Met587Leu, XP_016873566.1:p.Met587Val, XP_016873562.1:p.Met587Leu, XP_016873562.1:p.Met587Val, XP_016873564.1:p.Met587Leu, XP_016873564.1:p.Met587Val, NP_065980.1:p.Met587Leu, NP_065980.1:p.Met587Val, NP_001245348.1:p.Met587Leu, NP_001245348.1:p.Met587Val, XP_047283307.1:p.Met587Leu, XP_047283307.1:p.Met587Val, XP_047283306.1:p.Met587Leu, XP_047283306.1:p.Met587Val, XP_047283305.1:p.Met587Leu, XP_047283305.1:p.Met587Val, XP_047283308.1:p.Met587Leu, XP_047283308.1:p.Met587Val

Select item 147576051513.

rs1475760515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:40114248 (GRCh38)
11:40135798 (GRCh37)
Canonical SPDI:: NC_000011.10:40114247:T:C
Gene:: LRRC4C (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.40114248T>C, NC_000011.9:g.40135798T>C, XM_011520241.4:c.*122A>G, XM_011520241.3:c.*122A>G, XM_011520241.2:c.*122A>G, XM_011520241.1:c.*122A>G, XM_011520242.4:c.*122A>G, XM_011520242.3:c.*122A>G, XM_011520242.2:c.*122A>G, XM_011520242.1:c.*122A>G, XM_011520239.4:c.*122A>G, XM_011520239.3:c.*122A>G, XM_011520239.2:c.*122A>G, XM_011520239.1:c.*122A>G, XM_011520238.4:c.*122A>G, XM_011520238.3:c.*122A>G, XM_011520238.2:c.*122A>G, XM_011520238.1:c.*122A>G, XM_011520243.4:c.*122A>G, XM_011520243.3:c.*122A>G, XM_011520243.2:c.*122A>G, XM_011520243.1:c.*122A>G, XM_011520240.4:c.*122A>G, XM_011520240.3:c.*122A>G, XM_011520240.2:c.*122A>G, XM_011520240.1:c.*122A>G, XM_011520244.4:c.*122A>G, XM_011520244.3:c.*122A>G, XM_011520244.2:c.*122A>G, XM_011520244.1:c.*122A>G, XM_017018078.3:c.*122A>G, XM_017018078.2:c.*122A>G, XM_017018078.1:c.*122A>G, XM_017018074.3:c.*122A>G, XM_017018074.2:c.*122A>G, XM_017018074.1:c.*122A>G, XM_017018076.3:c.*122A>G, XM_017018076.2:c.*122A>G, XM_017018076.1:c.*122A>G, XM_017018070.3:c.*122A>G, XM_017018070.2:c.*122A>G, XM_017018070.1:c.*122A>G, XM_017018071.3:c.*122A>G, XM_017018071.2:c.*122A>G, XM_017018071.1:c.*122A>G, XM_017018079.3:c.*122A>G, XM_017018079.2:c.*122A>G, XM_017018079.1:c.*122A>G, XM_017018072.3:c.*122A>G, XM_017018072.2:c.*122A>G, XM_017018072.1:c.*122A>G, XM_017018077.3:c.*122A>G, XM_017018077.2:c.*122A>G, XM_017018077.1:c.*122A>G, XM_017018073.3:c.*122A>G, XM_017018073.2:c.*122A>G, XM_017018073.1:c.*122A>G, XM_017018075.3:c.*122A>G, XM_017018075.2:c.*122A>G, XM_017018075.1:c.*122A>G, NM_020929.3:c.*122A>G, NM_020929.2:c.*122A>G, NM_001258419.2:c.*122A>G, NM_001258419.1:c.*122A>G, XM_047427351.1:c.*122A>G, XM_047427350.1:c.*122A>G, NR_047673.1:n.3078A>G, XM_047427349.1:c.*122A>G, NR_047674.1:n.3025A>G, XM_047427352.1:c.*122A>G

Select item 147391468114.

rs1473914681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:40116113 (GRCh38)
11:40137663 (GRCh37)
Canonical SPDI:: NC_000011.10:40116112:C:G
Gene:: LRRC4C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.40116113C>G, NC_000011.9:g.40137663C>G, XM_011520241.4:c.180G>C, XM_011520241.3:c.180G>C, XM_011520241.2:c.180G>C, XM_011520241.1:c.180G>C, XM_011520242.4:c.180G>C, XM_011520242.3:c.180G>C, XM_011520242.2:c.180G>C, XM_011520242.1:c.180G>C, XM_011520239.4:c.180G>C, XM_011520239.3:c.180G>C, XM_011520239.2:c.180G>C, XM_011520239.1:c.180G>C, XM_011520238.4:c.180G>C, XM_011520238.3:c.180G>C, XM_011520238.2:c.180G>C, XM_011520238.1:c.180G>C, XM_011520243.4:c.180G>C, XM_011520243.3:c.180G>C, XM_011520243.2:c.180G>C, XM_011520243.1:c.180G>C, XM_011520240.4:c.180G>C, XM_011520240.3:c.180G>C, XM_011520240.2:c.180G>C, XM_011520240.1:c.180G>C, XM_011520244.4:c.180G>C, XM_011520244.3:c.180G>C, XM_011520244.2:c.180G>C, XM_011520244.1:c.180G>C, XM_017018078.3:c.180G>C, XM_017018078.2:c.180G>C, XM_017018078.1:c.180G>C, XM_017018074.3:c.180G>C, XM_017018074.2:c.180G>C, XM_017018074.1:c.180G>C, XM_017018076.3:c.180G>C, XM_017018076.2:c.180G>C, XM_017018076.1:c.180G>C, XM_017018070.3:c.180G>C, XM_017018070.2:c.180G>C, XM_017018070.1:c.180G>C, XM_017018071.3:c.180G>C, XM_017018071.2:c.180G>C, XM_017018071.1:c.180G>C, XM_017018079.3:c.180G>C, XM_017018079.2:c.180G>C, XM_017018079.1:c.180G>C, XM_017018072.3:c.180G>C, XM_017018072.2:c.180G>C, XM_017018072.1:c.180G>C, XM_017018077.3:c.180G>C, XM_017018077.2:c.180G>C, XM_017018077.1:c.180G>C, XM_017018073.3:c.180G>C, XM_017018073.2:c.180G>C, XM_017018073.1:c.180G>C, XM_017018075.3:c.180G>C, XM_017018075.2:c.180G>C, XM_017018075.1:c.180G>C, NM_020929.3:c.180G>C, NM_020929.2:c.180G>C, NM_001258419.2:c.180G>C, NM_001258419.1:c.180G>C, XM_047427351.1:c.180G>C, XM_047427350.1:c.180G>C, NR_047673.1:n.1213G>C, XM_047427349.1:c.180G>C, NR_047674.1:n.1160G>C, XM_047427352.1:c.180G>C

Select item 147010455915.

rs1470104559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:40116206 (GRCh38)
11:40137756 (GRCh37)
Canonical SPDI:: NC_000011.10:40116205:C:T
Gene:: LRRC4C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_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_000011.10:g.40116206C>T, NC_000011.9:g.40137756C>T, XM_011520241.4:c.87G>A, XM_011520241.3:c.87G>A, XM_011520241.2:c.87G>A, XM_011520241.1:c.87G>A, XM_011520242.4:c.87G>A, XM_011520242.3:c.87G>A, XM_011520242.2:c.87G>A, XM_011520242.1:c.87G>A, XM_011520239.4:c.87G>A, XM_011520239.3:c.87G>A, XM_011520239.2:c.87G>A, XM_011520239.1:c.87G>A, XM_011520238.4:c.87G>A, XM_011520238.3:c.87G>A, XM_011520238.2:c.87G>A, XM_011520238.1:c.87G>A, XM_011520243.4:c.87G>A, XM_011520243.3:c.87G>A, XM_011520243.2:c.87G>A, XM_011520243.1:c.87G>A, XM_011520240.4:c.87G>A, XM_011520240.3:c.87G>A, XM_011520240.2:c.87G>A, XM_011520240.1:c.87G>A, XM_011520244.4:c.87G>A, XM_011520244.3:c.87G>A, XM_011520244.2:c.87G>A, XM_011520244.1:c.87G>A, XM_017018078.3:c.87G>A, XM_017018078.2:c.87G>A, XM_017018078.1:c.87G>A, XM_017018074.3:c.87G>A, XM_017018074.2:c.87G>A, XM_017018074.1:c.87G>A, XM_017018076.3:c.87G>A, XM_017018076.2:c.87G>A, XM_017018076.1:c.87G>A, XM_017018070.3:c.87G>A, XM_017018070.2:c.87G>A, XM_017018070.1:c.87G>A, XM_017018071.3:c.87G>A, XM_017018071.2:c.87G>A, XM_017018071.1:c.87G>A, XM_017018079.3:c.87G>A, XM_017018079.2:c.87G>A, XM_017018079.1:c.87G>A, XM_017018072.3:c.87G>A, XM_017018072.2:c.87G>A, XM_017018072.1:c.87G>A, XM_017018077.3:c.87G>A, XM_017018077.2:c.87G>A, XM_017018077.1:c.87G>A, XM_017018073.3:c.87G>A, XM_017018073.2:c.87G>A, XM_017018073.1:c.87G>A, XM_017018075.3:c.87G>A, XM_017018075.2:c.87G>A, XM_017018075.1:c.87G>A, NM_020929.3:c.87G>A, NM_020929.2:c.87G>A, NM_001258419.2:c.87G>A, NM_001258419.1:c.87G>A, XM_047427351.1:c.87G>A, XM_047427350.1:c.87G>A, NR_047673.1:n.1120G>A, XM_047427349.1:c.87G>A, NR_047674.1:n.1067G>A, XM_047427352.1:c.87G>A

Select item 146843324316.

rs1468433243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:40114258 (GRCh38)
11:40135808 (GRCh37)
Canonical SPDI:: NC_000011.10:40114257:T:G
Gene:: LRRC4C (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.40114258T>G, NC_000011.9:g.40135808T>G, XM_011520241.4:c.*112A>C, XM_011520241.3:c.*112A>C, XM_011520241.2:c.*112A>C, XM_011520241.1:c.*112A>C, XM_011520242.4:c.*112A>C, XM_011520242.3:c.*112A>C, XM_011520242.2:c.*112A>C, XM_011520242.1:c.*112A>C, XM_011520239.4:c.*112A>C, XM_011520239.3:c.*112A>C, XM_011520239.2:c.*112A>C, XM_011520239.1:c.*112A>C, XM_011520238.4:c.*112A>C, XM_011520238.3:c.*112A>C, XM_011520238.2:c.*112A>C, XM_011520238.1:c.*112A>C, XM_011520243.4:c.*112A>C, XM_011520243.3:c.*112A>C, XM_011520243.2:c.*112A>C, XM_011520243.1:c.*112A>C, XM_011520240.4:c.*112A>C, XM_011520240.3:c.*112A>C, XM_011520240.2:c.*112A>C, XM_011520240.1:c.*112A>C, XM_011520244.4:c.*112A>C, XM_011520244.3:c.*112A>C, XM_011520244.2:c.*112A>C, XM_011520244.1:c.*112A>C, XM_017018078.3:c.*112A>C, XM_017018078.2:c.*112A>C, XM_017018078.1:c.*112A>C, XM_017018074.3:c.*112A>C, XM_017018074.2:c.*112A>C, XM_017018074.1:c.*112A>C, XM_017018076.3:c.*112A>C, XM_017018076.2:c.*112A>C, XM_017018076.1:c.*112A>C, XM_017018070.3:c.*112A>C, XM_017018070.2:c.*112A>C, XM_017018070.1:c.*112A>C, XM_017018071.3:c.*112A>C, XM_017018071.2:c.*112A>C, XM_017018071.1:c.*112A>C, XM_017018079.3:c.*112A>C, XM_017018079.2:c.*112A>C, XM_017018079.1:c.*112A>C, XM_017018072.3:c.*112A>C, XM_017018072.2:c.*112A>C, XM_017018072.1:c.*112A>C, XM_017018077.3:c.*112A>C, XM_017018077.2:c.*112A>C, XM_017018077.1:c.*112A>C, XM_017018073.3:c.*112A>C, XM_017018073.2:c.*112A>C, XM_017018073.1:c.*112A>C, XM_017018075.3:c.*112A>C, XM_017018075.2:c.*112A>C, XM_017018075.1:c.*112A>C, NM_020929.3:c.*112A>C, NM_020929.2:c.*112A>C, NM_001258419.2:c.*112A>C, NM_001258419.1:c.*112A>C, XM_047427351.1:c.*112A>C, XM_047427350.1:c.*112A>C, NR_047673.1:n.3068A>C, XM_047427349.1:c.*112A>C, NR_047674.1:n.3015A>C, XM_047427352.1:c.*112A>C

Select item 146828086317.

rs1468280863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:40114881 (GRCh38)
11:40136431 (GRCh37)
Canonical SPDI:: NC_000011.10:40114880:G:A
Gene:: LRRC4C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.40114881G>A, NC_000011.9:g.40136431G>A, XM_011520241.4:c.1412C>T, XM_011520241.3:c.1412C>T, XM_011520241.2:c.1412C>T, XM_011520241.1:c.1412C>T, XM_011520242.4:c.1412C>T, XM_011520242.3:c.1412C>T, XM_011520242.2:c.1412C>T, XM_011520242.1:c.1412C>T, XM_011520239.4:c.1412C>T, XM_011520239.3:c.1412C>T, XM_011520239.2:c.1412C>T, XM_011520239.1:c.1412C>T, XM_011520238.4:c.1412C>T, XM_011520238.3:c.1412C>T, XM_011520238.2:c.1412C>T, XM_011520238.1:c.1412C>T, XM_011520243.4:c.1412C>T, XM_011520243.3:c.1412C>T, XM_011520243.2:c.1412C>T, XM_011520243.1:c.1412C>T, XM_011520240.4:c.1412C>T, XM_011520240.3:c.1412C>T, XM_011520240.2:c.1412C>T, XM_011520240.1:c.1412C>T, XM_011520244.4:c.1412C>T, XM_011520244.3:c.1412C>T, XM_011520244.2:c.1412C>T, XM_011520244.1:c.1412C>T, XM_017018078.3:c.1412C>T, XM_017018078.2:c.1412C>T, XM_017018078.1:c.1412C>T, XM_017018074.3:c.1412C>T, XM_017018074.2:c.1412C>T, XM_017018074.1:c.1412C>T, XM_017018076.3:c.1412C>T, XM_017018076.2:c.1412C>T, XM_017018076.1:c.1412C>T, XM_017018070.3:c.1412C>T, XM_017018070.2:c.1412C>T, XM_017018070.1:c.1412C>T, XM_017018071.3:c.1412C>T, XM_017018071.2:c.1412C>T, XM_017018071.1:c.1412C>T, XM_017018079.3:c.1412C>T, XM_017018079.2:c.1412C>T, XM_017018079.1:c.1412C>T, XM_017018072.3:c.1412C>T, XM_017018072.2:c.1412C>T, XM_017018072.1:c.1412C>T, XM_017018077.3:c.1412C>T, XM_017018077.2:c.1412C>T, XM_017018077.1:c.1412C>T, XM_017018073.3:c.1412C>T, XM_017018073.2:c.1412C>T, XM_017018073.1:c.1412C>T, XM_017018075.3:c.1412C>T, XM_017018075.2:c.1412C>T, XM_017018075.1:c.1412C>T, NM_020929.3:c.1412C>T, NM_020929.2:c.1412C>T, NM_001258419.2:c.1412C>T, NM_001258419.1:c.1412C>T, XM_047427351.1:c.1412C>T, XM_047427350.1:c.1412C>T, NR_047673.1:n.2445C>T, XM_047427349.1:c.1412C>T, NR_047674.1:n.2392C>T, XM_047427352.1:c.1412C>T, XP_011518543.1:p.Thr471Ile, XP_011518544.1:p.Thr471Ile, XP_011518541.1:p.Thr471Ile, XP_011518540.1:p.Thr471Ile, XP_011518545.1:p.Thr471Ile, XP_011518542.1:p.Thr471Ile, XP_011518546.1:p.Thr471Ile, XP_016873567.1:p.Thr471Ile, XP_016873563.1:p.Thr471Ile, XP_016873565.1:p.Thr471Ile, XP_016873559.1:p.Thr471Ile, XP_016873560.1:p.Thr471Ile, XP_016873568.1:p.Thr471Ile, XP_016873561.1:p.Thr471Ile, XP_016873566.1:p.Thr471Ile, XP_016873562.1:p.Thr471Ile, XP_016873564.1:p.Thr471Ile, NP_065980.1:p.Thr471Ile, NP_001245348.1:p.Thr471Ile, XP_047283307.1:p.Thr471Ile, XP_047283306.1:p.Thr471Ile, XP_047283305.1:p.Thr471Ile, XP_047283308.1:p.Thr471Ile

Select item 146739326418.

rs1467393264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:40292722 (GRCh38)
11:40314272 (GRCh37)
Canonical SPDI:: NC_000011.10:40292721:T:A,NC_000011.10:40292721:T:G
Gene:: LRRC4C (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.40292722T>A, NC_000011.10:g.40292722T>G, NC_000011.9:g.40314272T>A, NC_000011.9:g.40314272T>G, XM_011520241.4:c.-705A>T, XM_011520241.4:c.-705A>C, XM_011520241.3:c.-705A>T, XM_011520241.3:c.-705A>C, XM_011520241.2:c.-705A>T, XM_011520241.2:c.-705A>C, XM_011520241.1:c.-705A>T, XM_011520241.1:c.-705A>C, XM_011520242.4:c.-691A>T, XM_011520242.4:c.-691A>C, XM_011520242.3:c.-691A>T, XM_011520242.3:c.-691A>C, XM_011520242.2:c.-691A>T, XM_011520242.2:c.-691A>C, XM_011520242.1:c.-691A>T, XM_011520242.1:c.-691A>C, XM_017018078.3:c.-771A>T, XM_017018078.3:c.-771A>C, XM_017018078.2:c.-771A>T, XM_017018078.2:c.-771A>C, XM_017018078.1:c.-771A>T, XM_017018078.1:c.-771A>C, XM_017018074.3:c.-686A>T, XM_017018074.3:c.-686A>C, XM_017018074.2:c.-686A>T, XM_017018074.2:c.-686A>C, XM_017018074.1:c.-686A>T, XM_017018074.1:c.-686A>C, XM_017018076.3:c.-652A>T, XM_017018076.3:c.-652A>C, XM_017018076.2:c.-652A>T, XM_017018076.2:c.-652A>C, XM_017018076.1:c.-652A>T, XM_017018076.1:c.-652A>C, NR_047673.1:n.409A>T, NR_047673.1:n.409A>C, NR_047674.1:n.409A>T, NR_047674.1:n.409A>C

Select item 146734481019.

rs1467344810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCA>- [Show Flanks]
Chromosome:: 11:40292834 (GRCh38)
11:40314384 (GRCh37)
Canonical SPDI:: NC_000011.10:40292831:CAATCA:CA
Gene:: LRRC4C (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.40292834_40292837del, NC_000011.9:g.40314384_40314387del, XM_011520241.4:c.-818_-815del, XM_011520241.3:c.-818_-815del, XM_011520241.2:c.-818_-815del, XM_011520241.1:c.-818_-815del, XM_011520242.4:c.-804_-801del, XM_011520242.3:c.-804_-801del, XM_011520242.2:c.-804_-801del, XM_011520242.1:c.-804_-801del, XM_017018078.3:c.-884_-881del, XM_017018078.2:c.-884_-881del, XM_017018078.1:c.-884_-881del, XM_017018074.3:c.-799_-796del, XM_017018074.2:c.-799_-796del, XM_017018074.1:c.-799_-796del, XM_017018076.3:c.-765_-762del, XM_017018076.2:c.-765_-762del, XM_017018076.1:c.-765_-762del, NR_047673.1:n.296_299del, NR_047674.1:n.296_299del

Select item 146707855320.

rs1467078553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:40114947 (GRCh38)
11:40136497 (GRCh37)
Canonical SPDI:: NC_000011.10:40114946:G:A
Gene:: LRRC4C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.40114947G>A, NC_000011.9:g.40136497G>A, XM_011520241.4:c.1346C>T, XM_011520241.3:c.1346C>T, XM_011520241.2:c.1346C>T, XM_011520241.1:c.1346C>T, XM_011520242.4:c.1346C>T, XM_011520242.3:c.1346C>T, XM_011520242.2:c.1346C>T, XM_011520242.1:c.1346C>T, XM_011520239.4:c.1346C>T, XM_011520239.3:c.1346C>T, XM_011520239.2:c.1346C>T, XM_011520239.1:c.1346C>T, XM_011520238.4:c.1346C>T, XM_011520238.3:c.1346C>T, XM_011520238.2:c.1346C>T, XM_011520238.1:c.1346C>T, XM_011520243.4:c.1346C>T, XM_011520243.3:c.1346C>T, XM_011520243.2:c.1346C>T, XM_011520243.1:c.1346C>T, XM_011520240.4:c.1346C>T, XM_011520240.3:c.1346C>T, XM_011520240.2:c.1346C>T, XM_011520240.1:c.1346C>T, XM_011520244.4:c.1346C>T, XM_011520244.3:c.1346C>T, XM_011520244.2:c.1346C>T, XM_011520244.1:c.1346C>T, XM_017018078.3:c.1346C>T, XM_017018078.2:c.1346C>T, XM_017018078.1:c.1346C>T, XM_017018074.3:c.1346C>T, XM_017018074.2:c.1346C>T, XM_017018074.1:c.1346C>T, XM_017018076.3:c.1346C>T, XM_017018076.2:c.1346C>T, XM_017018076.1:c.1346C>T, XM_017018070.3:c.1346C>T, XM_017018070.2:c.1346C>T, XM_017018070.1:c.1346C>T, XM_017018071.3:c.1346C>T, XM_017018071.2:c.1346C>T, XM_017018071.1:c.1346C>T, XM_017018079.3:c.1346C>T, XM_017018079.2:c.1346C>T, XM_017018079.1:c.1346C>T, XM_017018072.3:c.1346C>T, XM_017018072.2:c.1346C>T, XM_017018072.1:c.1346C>T, XM_017018077.3:c.1346C>T, XM_017018077.2:c.1346C>T, XM_017018077.1:c.1346C>T, XM_017018073.3:c.1346C>T, XM_017018073.2:c.1346C>T, XM_017018073.1:c.1346C>T, XM_017018075.3:c.1346C>T, XM_017018075.2:c.1346C>T, XM_017018075.1:c.1346C>T, NM_020929.3:c.1346C>T, NM_020929.2:c.1346C>T, NM_001258419.2:c.1346C>T, NM_001258419.1:c.1346C>T, XM_047427351.1:c.1346C>T, XM_047427350.1:c.1346C>T, NR_047673.1:n.2379C>T, XM_047427349.1:c.1346C>T, NR_047674.1:n.2326C>T, XM_047427352.1:c.1346C>T, XP_011518543.1:p.Thr449Ile, XP_011518544.1:p.Thr449Ile, XP_011518541.1:p.Thr449Ile, XP_011518540.1:p.Thr449Ile, XP_011518545.1:p.Thr449Ile, XP_011518542.1:p.Thr449Ile, XP_011518546.1:p.Thr449Ile, XP_016873567.1:p.Thr449Ile, XP_016873563.1:p.Thr449Ile, XP_016873565.1:p.Thr449Ile, XP_016873559.1:p.Thr449Ile, XP_016873560.1:p.Thr449Ile, XP_016873568.1:p.Thr449Ile, XP_016873561.1:p.Thr449Ile, XP_016873566.1:p.Thr449Ile, XP_016873562.1:p.Thr449Ile, XP_016873564.1:p.Thr449Ile, NP_065980.1:p.Thr449Ile, NP_001245348.1:p.Thr449Ile, XP_047283307.1:p.Thr449Ile, XP_047283306.1:p.Thr449Ile, XP_047283305.1:p.Thr449Ile, XP_047283308.1:p.Thr449Ile

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