SNP Links for Nucleotide (Select 364502954) - SNP

Select item 14857922401.

rs1485792240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:3606131 (GRCh38)
2:3653721 (GRCh37)
Canonical SPDI:: NC_000002.12:3606130:G:C
Gene:: COLEC11 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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_000002.12:g.3606131G>C, NC_000002.11:g.3653721G>C, NG_031954.1:g.16300G>C, NM_001255986.1:c.-61G>C, NM_001255988.1:c.-61G>C, NM_001255987.1:c.-61G>C, NM_001255989.1:c.-61G>C

Select item 14839768572.

rs1483976857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3644329 (GRCh38)
2:3691919 (GRCh37)
Canonical SPDI:: NC_000002.12:3644328:G:A
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3644329G>A, NC_000002.11:g.3691919G>A, NG_031954.1:g.54498G>A, NM_024027.5:c.*211G>A, NM_024027.4:c.*211G>A, NM_199235.3:c.*211G>A, NM_199235.2:c.*211G>A, NR_045659.2:n.1303G>A, NR_045659.1:n.1583G>A, NM_001255983.2:c.*211G>A, NM_001255983.1:c.*211G>A, NM_001255982.2:c.*211G>A, NM_001255982.1:c.*211G>A, NM_001255984.2:c.*211G>A, NM_001255984.1:c.*211G>A, NM_001255985.1:c.*211G>A, NM_001255986.1:c.*211G>A, NM_001255988.1:c.*211G>A, NM_001255987.1:c.*211G>A, NM_001255989.1:c.*211G>A, XM_005263853.5:c.*211G>A, XM_005263853.4:c.*211G>A, XM_005263853.3:c.*211G>A, XM_005263853.2:c.*211G>A, XM_005263853.1:c.*211G>A, XM_006711897.4:c.*211G>A, XM_006711897.3:c.*211G>A, XM_006711897.2:c.*211G>A, XM_006711897.1:c.*211G>A

Select item 14815022883.

rs1481502288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:3643496 (GRCh38)
2:3691086 (GRCh37)
Canonical SPDI:: NC_000002.12:3643495:C:A
Gene:: COLEC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.3643496C>A, NC_000002.11:g.3691086C>A, NG_031954.1:g.53665C>A, NM_024027.5:c.381C>A, NM_024027.4:c.381C>A, NM_199235.3:c.372C>A, NM_199235.2:c.372C>A, NR_045659.2:n.657C>A, NR_045659.1:n.937C>A, NM_001255983.2:c.309C>A, NM_001255983.1:c.309C>A, NM_001255982.2:c.309C>A, NM_001255982.1:c.309C>A, NM_001255984.2:c.237C>A, NM_001255984.1:c.237C>A, NM_001255985.1:c.423C>A, NM_001255986.1:c.303C>A, NM_001255988.1:c.231C>A, NM_001255987.1:c.231C>A, NM_001255989.1:c.159C>A, XM_005263853.5:c.351C>A, XM_005263853.4:c.351C>A, XM_005263853.3:c.351C>A, XM_005263853.2:c.351C>A, XM_005263853.1:c.351C>A, XM_006711897.4:c.351C>A, XM_006711897.3:c.351C>A, XM_006711897.2:c.351C>A, XM_006711897.1:c.351C>A, NP_076932.1:p.Asn127Lys, NP_954705.1:p.Asn124Lys, NP_001242912.1:p.Asn103Lys, NP_001242911.1:p.Asn103Lys, NP_001242913.1:p.Asn79Lys, NP_001242914.1:p.Asn141Lys, NP_001242915.1:p.Asn101Lys, NP_001242917.1:p.Asn77Lys, NP_001242916.1:p.Asn77Lys, NP_001242918.1:p.Asn53Lys, XP_005263910.1:p.Asn117Lys, XP_006711960.1:p.Asn117Lys

Select item 14781825694.

rs1478182569 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACG>- [Show Flanks]
Chromosome:: 2:3644060 (GRCh38)
2:3691650 (GRCh37)
Canonical SPDI:: NC_000002.12:3644056:ACGACG:ACG
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: inframe_deletion,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3644057ACG[1], NC_000002.11:g.3691647ACG[1], NG_031954.1:g.54226ACG[1], NM_024027.5:c.755ACG[1], NM_024027.4:c.755ACG[1], NM_199235.3:c.746ACG[1], NM_199235.2:c.746ACG[1], NR_045659.2:n.1031ACG[1], NR_045659.1:n.1311ACG[1], NM_001255983.2:c.683ACG[1], NM_001255983.1:c.683ACG[1], NM_001255982.2:c.683ACG[1], NM_001255982.1:c.683ACG[1], NM_001255984.2:c.611ACG[1], NM_001255984.1:c.611ACG[1], NM_001255985.1:c.797ACG[1], NM_001255986.1:c.677ACG[1], NM_001255988.1:c.605ACG[1], NM_001255987.1:c.605ACG[1], NM_001255989.1:c.533ACG[1], XM_005263853.5:c.725ACG[1], XM_005263853.4:c.725ACG[1], XM_005263853.3:c.725ACG[1], XM_005263853.2:c.725ACG[1], XM_005263853.1:c.725ACG[1], XM_006711897.4:c.725ACG[1], XM_006711897.3:c.725ACG[1], XM_006711897.2:c.725ACG[1], XM_006711897.1:c.725ACG[1], NP_076932.1:p.Asp253del, NP_954705.1:p.Asp250del, NP_001242912.1:p.Asp229del, NP_001242911.1:p.Asp229del, NP_001242913.1:p.Asp205del, NP_001242914.1:p.Asp267del, NP_001242915.1:p.Asp227del, NP_001242917.1:p.Asp203del, NP_001242916.1:p.Asp203del, NP_001242918.1:p.Asp179del, XP_005263910.1:p.Asp243del, XP_006711960.1:p.Asp243del

Select item 14716202215.

rs1471620221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:3643924 (GRCh38)
2:3691514 (GRCh37)
Canonical SPDI:: NC_000002.12:3643923:C:G
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3643924C>G, NC_000002.11:g.3691514C>G, NG_031954.1:g.54093C>G, NM_024027.5:c.622C>G, NM_024027.4:c.622C>G, NM_199235.3:c.613C>G, NM_199235.2:c.613C>G, NR_045659.2:n.898C>G, NR_045659.1:n.1178C>G, NM_001255983.2:c.550C>G, NM_001255983.1:c.550C>G, NM_001255982.2:c.550C>G, NM_001255982.1:c.550C>G, NM_001255984.2:c.478C>G, NM_001255984.1:c.478C>G, NM_001255985.1:c.664C>G, NM_001255986.1:c.544C>G, NM_001255988.1:c.472C>G, NM_001255987.1:c.472C>G, NM_001255989.1:c.400C>G, XM_005263853.5:c.592C>G, XM_005263853.4:c.592C>G, XM_005263853.3:c.592C>G, XM_005263853.2:c.592C>G, XM_005263853.1:c.592C>G, XM_006711897.4:c.592C>G, XM_006711897.3:c.592C>G, XM_006711897.2:c.592C>G, XM_006711897.1:c.592C>G, NP_076932.1:p.Leu208Val, NP_954705.1:p.Leu205Val, NP_001242912.1:p.Leu184Val, NP_001242911.1:p.Leu184Val, NP_001242913.1:p.Leu160Val, NP_001242914.1:p.Leu222Val, NP_001242915.1:p.Leu182Val, NP_001242917.1:p.Leu158Val, NP_001242916.1:p.Leu158Val, NP_001242918.1:p.Leu134Val, XP_005263910.1:p.Leu198Val, XP_006711960.1:p.Leu198Val

Select item 14695286906.

rs1469528690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3643893 (GRCh38)
2:3691483 (GRCh37)
Canonical SPDI:: NC_000002.12:3643892:C:T
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3643893C>T, NC_000002.11:g.3691483C>T, NG_031954.1:g.54062C>T, NM_024027.5:c.591C>T, NM_024027.4:c.591C>T, NM_199235.3:c.582C>T, NM_199235.2:c.582C>T, NR_045659.2:n.867C>T, NR_045659.1:n.1147C>T, NM_001255983.2:c.519C>T, NM_001255983.1:c.519C>T, NM_001255982.2:c.519C>T, NM_001255982.1:c.519C>T, NM_001255984.2:c.447C>T, NM_001255984.1:c.447C>T, NM_001255985.1:c.633C>T, NM_001255986.1:c.513C>T, NM_001255988.1:c.441C>T, NM_001255987.1:c.441C>T, NM_001255989.1:c.369C>T, XM_005263853.5:c.561C>T, XM_005263853.4:c.561C>T, XM_005263853.3:c.561C>T, XM_005263853.2:c.561C>T, XM_005263853.1:c.561C>T, XM_006711897.4:c.561C>T, XM_006711897.3:c.561C>T, XM_006711897.2:c.561C>T, XM_006711897.1:c.561C>T

Select item 14659549777.

rs1465954977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3643865 (GRCh38)
2:3691455 (GRCh37)
Canonical SPDI:: NC_000002.12:3643864:T:C
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.3643865T>C, NC_000002.11:g.3691455T>C, NG_031954.1:g.54034T>C, NM_024027.5:c.563T>C, NM_024027.4:c.563T>C, NM_199235.3:c.554T>C, NM_199235.2:c.554T>C, NR_045659.2:n.839T>C, NR_045659.1:n.1119T>C, NM_001255983.2:c.491T>C, NM_001255983.1:c.491T>C, NM_001255982.2:c.491T>C, NM_001255982.1:c.491T>C, NM_001255984.2:c.419T>C, NM_001255984.1:c.419T>C, NM_001255985.1:c.605T>C, NM_001255986.1:c.485T>C, NM_001255988.1:c.413T>C, NM_001255987.1:c.413T>C, NM_001255989.1:c.341T>C, XM_005263853.5:c.533T>C, XM_005263853.4:c.533T>C, XM_005263853.3:c.533T>C, XM_005263853.2:c.533T>C, XM_005263853.1:c.533T>C, XM_006711897.4:c.533T>C, XM_006711897.3:c.533T>C, XM_006711897.2:c.533T>C, XM_006711897.1:c.533T>C, NP_076932.1:p.Leu188Pro, NP_954705.1:p.Leu185Pro, NP_001242912.1:p.Leu164Pro, NP_001242911.1:p.Leu164Pro, NP_001242913.1:p.Leu140Pro, NP_001242914.1:p.Leu202Pro, NP_001242915.1:p.Leu162Pro, NP_001242917.1:p.Leu138Pro, NP_001242916.1:p.Leu138Pro, NP_001242918.1:p.Leu114Pro, XP_005263910.1:p.Leu178Pro, XP_006711960.1:p.Leu178Pro

Select item 14551609198.

rs1455160919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3643803 (GRCh38)
2:3691393 (GRCh37)
Canonical SPDI:: NC_000002.12:3643802:G:A
Gene:: COLEC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3643803G>A, NC_000002.11:g.3691393G>A, NG_031954.1:g.53972G>A, NM_024027.5:c.501G>A, NM_024027.4:c.501G>A, NM_199235.3:c.492G>A, NM_199235.2:c.492G>A, NR_045659.2:n.777G>A, NR_045659.1:n.1057G>A, NM_001255983.2:c.429G>A, NM_001255983.1:c.429G>A, NM_001255982.2:c.429G>A, NM_001255982.1:c.429G>A, NM_001255984.2:c.357G>A, NM_001255984.1:c.357G>A, NM_001255985.1:c.543G>A, NM_001255986.1:c.423G>A, NM_001255988.1:c.351G>A, NM_001255987.1:c.351G>A, NM_001255989.1:c.279G>A, XM_005263853.5:c.471G>A, XM_005263853.4:c.471G>A, XM_005263853.3:c.471G>A, XM_005263853.2:c.471G>A, XM_005263853.1:c.471G>A, XM_006711897.4:c.471G>A, XM_006711897.3:c.471G>A, XM_006711897.2:c.471G>A, XM_006711897.1:c.471G>A

Select item 14549347659.

rs1454934765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3643860 (GRCh38)
2:3691450 (GRCh37)
Canonical SPDI:: NC_000002.12:3643859:T:C
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3643860T>C, NC_000002.11:g.3691450T>C, NG_031954.1:g.54029T>C, NM_024027.5:c.558T>C, NM_024027.4:c.558T>C, NM_199235.3:c.549T>C, NM_199235.2:c.549T>C, NR_045659.2:n.834T>C, NR_045659.1:n.1114T>C, NM_001255983.2:c.486T>C, NM_001255983.1:c.486T>C, NM_001255982.2:c.486T>C, NM_001255982.1:c.486T>C, NM_001255984.2:c.414T>C, NM_001255984.1:c.414T>C, NM_001255985.1:c.600T>C, NM_001255986.1:c.480T>C, NM_001255988.1:c.408T>C, NM_001255987.1:c.408T>C, NM_001255989.1:c.336T>C, XM_005263853.5:c.528T>C, XM_005263853.4:c.528T>C, XM_005263853.3:c.528T>C, XM_005263853.2:c.528T>C, XM_005263853.1:c.528T>C, XM_006711897.4:c.528T>C, XM_006711897.3:c.528T>C, XM_006711897.2:c.528T>C, XM_006711897.1:c.528T>C

Select item 145434756910.

rs1454347569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3606214 (GRCh38)
2:3653804 (GRCh37)
Canonical SPDI:: NC_000002.12:3606213:C:T
Gene:: COLEC11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3606214C>T, NC_000002.11:g.3653804C>T, NG_031954.1:g.16383C>T, NM_001255986.1:c.23C>T, NM_001255988.1:c.23C>T, NM_001255987.1:c.23C>T, NM_001255989.1:c.23C>T, NP_001242915.1:p.Pro8Leu, NP_001242917.1:p.Pro8Leu, NP_001242916.1:p.Pro8Leu, NP_001242918.1:p.Pro8Leu

Select item 145424251711.

rs1454242517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3606081 (GRCh38)
2:3653671 (GRCh37)
Canonical SPDI:: NC_000002.12:3606080:C:T
Gene:: COLEC11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.3606081C>T, NC_000002.11:g.3653671C>T, NG_031954.1:g.16250C>T, NM_001255986.1:c.-111C>T, NM_001255988.1:c.-111C>T, NM_001255987.1:c.-111C>T, NM_001255989.1:c.-111C>T

Select item 145227044312.

rs1452270443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3643518 (GRCh38)
2:3691108 (GRCh37)
Canonical SPDI:: NC_000002.12:3643517:G:A
Gene:: COLEC11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3643518G>A, NC_000002.11:g.3691108G>A, NG_031954.1:g.53687G>A, NM_024027.5:c.403G>A, NM_024027.4:c.403G>A, NM_199235.3:c.394G>A, NM_199235.2:c.394G>A, NR_045659.2:n.679G>A, NR_045659.1:n.959G>A, NM_001255983.2:c.331G>A, NM_001255983.1:c.331G>A, NM_001255982.2:c.331G>A, NM_001255982.1:c.331G>A, NM_001255984.2:c.259G>A, NM_001255984.1:c.259G>A, NM_001255985.1:c.445G>A, NM_001255986.1:c.325G>A, NM_001255988.1:c.253G>A, NM_001255987.1:c.253G>A, NM_001255989.1:c.181G>A, XM_005263853.5:c.373G>A, XM_005263853.4:c.373G>A, XM_005263853.3:c.373G>A, XM_005263853.2:c.373G>A, XM_005263853.1:c.373G>A, XM_006711897.4:c.373G>A, XM_006711897.3:c.373G>A, XM_006711897.2:c.373G>A, XM_006711897.1:c.373G>A, NP_076932.1:p.Glu135Lys, NP_954705.1:p.Glu132Lys, NP_001242912.1:p.Glu111Lys, NP_001242911.1:p.Glu111Lys, NP_001242913.1:p.Glu87Lys, NP_001242914.1:p.Glu149Lys, NP_001242915.1:p.Glu109Lys, NP_001242917.1:p.Glu85Lys, NP_001242916.1:p.Glu85Lys, NP_001242918.1:p.Glu61Lys, XP_005263910.1:p.Glu125Lys, XP_006711960.1:p.Glu125Lys

Select item 145178062413.

rs1451780624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:3644567 (GRCh38)
2:3692157 (GRCh37)
Canonical SPDI:: NC_000002.12:3644566:A:G
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000023/2 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
G=0.000053/14 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.3644567A>G, NC_000002.11:g.3692157A>G, NG_031954.1:g.54736A>G, NM_024027.5:c.*449A>G, NM_024027.4:c.*449A>G, NM_199235.3:c.*449A>G, NM_199235.2:c.*449A>G, NR_045659.2:n.1541A>G, NR_045659.1:n.1821A>G, NM_001255983.2:c.*449A>G, NM_001255983.1:c.*449A>G, NM_001255982.2:c.*449A>G, NM_001255982.1:c.*449A>G, NM_001255984.2:c.*449A>G, NM_001255984.1:c.*449A>G, NM_001255985.1:c.*449A>G, NM_001255986.1:c.*449A>G, NM_001255988.1:c.*449A>G, NM_001255987.1:c.*449A>G, NM_001255989.1:c.*449A>G, XM_005263853.5:c.*449A>G, XM_005263853.4:c.*449A>G, XM_005263853.3:c.*449A>G, XM_006711897.4:c.*449A>G, XM_006711897.3:c.*449A>G, XM_006711897.2:c.*449A>G

Select item 144959609614.

rs1449596096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3644301 (GRCh38)
2:3691891 (GRCh37)
Canonical SPDI:: NC_000002.12:3644300:C:T
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3644301C>T, NC_000002.11:g.3691891C>T, NG_031954.1:g.54470C>T, NM_024027.5:c.*183C>T, NM_024027.4:c.*183C>T, NM_199235.3:c.*183C>T, NM_199235.2:c.*183C>T, NR_045659.2:n.1275C>T, NR_045659.1:n.1555C>T, NM_001255983.2:c.*183C>T, NM_001255983.1:c.*183C>T, NM_001255982.2:c.*183C>T, NM_001255982.1:c.*183C>T, NM_001255984.2:c.*183C>T, NM_001255984.1:c.*183C>T, NM_001255985.1:c.*183C>T, NM_001255986.1:c.*183C>T, NM_001255988.1:c.*183C>T, NM_001255987.1:c.*183C>T, NM_001255989.1:c.*183C>T, XM_005263853.5:c.*183C>T, XM_005263853.4:c.*183C>T, XM_005263853.3:c.*183C>T, XM_005263853.2:c.*183C>T, XM_005263853.1:c.*183C>T, XM_006711897.4:c.*183C>T, XM_006711897.3:c.*183C>T, XM_006711897.2:c.*183C>T, XM_006711897.1:c.*183C>T

Select item 144858852315.

rs1448588523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:3644145 (GRCh38)
2:3691735 (GRCh37)
Canonical SPDI:: NC_000002.12:3644144:G:T
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3644145G>T, NC_000002.11:g.3691735G>T, NG_031954.1:g.54314G>T, NM_024027.5:c.*27G>T, NM_024027.4:c.*27G>T, NM_199235.3:c.*27G>T, NM_199235.2:c.*27G>T, NR_045659.2:n.1119G>T, NR_045659.1:n.1399G>T, NM_001255983.2:c.*27G>T, NM_001255983.1:c.*27G>T, NM_001255982.2:c.*27G>T, NM_001255982.1:c.*27G>T, NM_001255984.2:c.*27G>T, NM_001255984.1:c.*27G>T, NM_001255985.1:c.*27G>T, NM_001255986.1:c.*27G>T, NM_001255988.1:c.*27G>T, NM_001255987.1:c.*27G>T, NM_001255989.1:c.*27G>T, XM_005263853.5:c.*27G>T, XM_005263853.4:c.*27G>T, XM_005263853.3:c.*27G>T, XM_005263853.2:c.*27G>T, XM_005263853.1:c.*27G>T, XM_006711897.4:c.*27G>T, XM_006711897.3:c.*27G>T, XM_006711897.2:c.*27G>T, XM_006711897.1:c.*27G>T

Select item 144494227316.

rs1444942273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:3643836 (GRCh38)
2:3691426 (GRCh37)
Canonical SPDI:: NC_000002.12:3643835:C:A,NC_000002.12:3643835:C:G
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3643836C>A, NC_000002.12:g.3643836C>G, NC_000002.11:g.3691426C>A, NC_000002.11:g.3691426C>G, NG_031954.1:g.54005C>A, NG_031954.1:g.54005C>G, NM_024027.5:c.534C>A, NM_024027.5:c.534C>G, NM_024027.4:c.534C>A, NM_024027.4:c.534C>G, NM_199235.3:c.525C>A, NM_199235.3:c.525C>G, NM_199235.2:c.525C>A, NM_199235.2:c.525C>G, NR_045659.2:n.810C>A, NR_045659.2:n.810C>G, NR_045659.1:n.1090C>A, NR_045659.1:n.1090C>G, NM_001255983.2:c.462C>A, NM_001255983.2:c.462C>G, NM_001255983.1:c.462C>A, NM_001255983.1:c.462C>G, NM_001255982.2:c.462C>A, NM_001255982.2:c.462C>G, NM_001255982.1:c.462C>A, NM_001255982.1:c.462C>G, NM_001255984.2:c.390C>A, NM_001255984.2:c.390C>G, NM_001255984.1:c.390C>A, NM_001255984.1:c.390C>G, NM_001255985.1:c.576C>A, NM_001255985.1:c.576C>G, NM_001255986.1:c.456C>A, NM_001255986.1:c.456C>G, NM_001255988.1:c.384C>A, NM_001255988.1:c.384C>G, NM_001255987.1:c.384C>A, NM_001255987.1:c.384C>G, NM_001255989.1:c.312C>A, NM_001255989.1:c.312C>G, XM_005263853.5:c.504C>A, XM_005263853.5:c.504C>G, XM_005263853.4:c.504C>A, XM_005263853.4:c.504C>G, XM_005263853.3:c.504C>A, XM_005263853.3:c.504C>G, XM_005263853.2:c.504C>A, XM_005263853.2:c.504C>G, XM_005263853.1:c.504C>A, XM_005263853.1:c.504C>G, XM_006711897.4:c.504C>A, XM_006711897.4:c.504C>G, XM_006711897.3:c.504C>A, XM_006711897.3:c.504C>G, XM_006711897.2:c.504C>A, XM_006711897.2:c.504C>G, XM_006711897.1:c.504C>A, XM_006711897.1:c.504C>G, NP_076932.1:p.Ser178Arg, NP_076932.1:p.Ser178Arg, NP_954705.1:p.Ser175Arg, NP_954705.1:p.Ser175Arg, NP_001242912.1:p.Ser154Arg, NP_001242912.1:p.Ser154Arg, NP_001242911.1:p.Ser154Arg, NP_001242911.1:p.Ser154Arg, NP_001242913.1:p.Ser130Arg, NP_001242913.1:p.Ser130Arg, NP_001242914.1:p.Ser192Arg, NP_001242914.1:p.Ser192Arg, NP_001242915.1:p.Ser152Arg, NP_001242915.1:p.Ser152Arg, NP_001242917.1:p.Ser128Arg, NP_001242917.1:p.Ser128Arg, NP_001242916.1:p.Ser128Arg, NP_001242916.1:p.Ser128Arg, NP_001242918.1:p.Ser104Arg, NP_001242918.1:p.Ser104Arg, XP_005263910.1:p.Ser168Arg, XP_005263910.1:p.Ser168Arg, XP_006711960.1:p.Ser168Arg, XP_006711960.1:p.Ser168Arg

Select item 144418587817.

rs1444185878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:3606242 (GRCh38)
2:3653832 (GRCh37)
Canonical SPDI:: NC_000002.12:3606241:A:C,NC_000002.12:3606241:A:T
Gene:: COLEC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.3606242A>C, NC_000002.12:g.3606242A>T, NC_000002.11:g.3653832A>C, NC_000002.11:g.3653832A>T, NG_031954.1:g.16411A>C, NG_031954.1:g.16411A>T, NM_001255986.1:c.51A>C, NM_001255986.1:c.51A>T, NM_001255988.1:c.51A>C, NM_001255988.1:c.51A>T, NM_001255987.1:c.51A>C, NM_001255987.1:c.51A>T, NM_001255989.1:c.51A>C, NM_001255989.1:c.51A>T

Select item 144151272818.

rs1441512728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3644551 (GRCh38)
2:3692141 (GRCh37)
Canonical SPDI:: NC_000002.12:3644550:T:C
Gene:: ALLC (Varview), COLEC11 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3644551T>C, NC_000002.11:g.3692141T>C, NG_031954.1:g.54720T>C, NM_024027.5:c.*433T>C, NM_024027.4:c.*433T>C, NM_199235.3:c.*433T>C, NM_199235.2:c.*433T>C, NR_045659.2:n.1525T>C, NR_045659.1:n.1805T>C, NM_001255983.2:c.*433T>C, NM_001255983.1:c.*433T>C, NM_001255982.2:c.*433T>C, NM_001255982.1:c.*433T>C, NM_001255984.2:c.*433T>C, NM_001255984.1:c.*433T>C, NM_001255985.1:c.*433T>C, NM_001255986.1:c.*433T>C, NM_001255988.1:c.*433T>C, NM_001255987.1:c.*433T>C, NM_001255989.1:c.*433T>C, XM_005263853.5:c.*433T>C, XM_005263853.4:c.*433T>C, XM_005263853.3:c.*433T>C, XM_006711897.4:c.*433T>C, XM_006711897.3:c.*433T>C, XM_006711897.2:c.*433T>C

Select item 143943136119.

rs1439431361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:3606153 (GRCh38)
2:3653743 (GRCh37)
Canonical SPDI:: NC_000002.12:3606152:G:A,NC_000002.12:3606152:G:C
Gene:: COLEC11 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.3606153G>A, NC_000002.12:g.3606153G>C, NC_000002.11:g.3653743G>A, NC_000002.11:g.3653743G>C, NG_031954.1:g.16322G>A, NG_031954.1:g.16322G>C, NM_001255986.1:c.-39G>A, NM_001255986.1:c.-39G>C, NM_001255988.1:c.-39G>A, NM_001255988.1:c.-39G>C, NM_001255987.1:c.-39G>A, NM_001255987.1:c.-39G>C, NM_001255989.1:c.-39G>A, NM_001255989.1:c.-39G>C

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