SNP Links for Gene (Select 4153) - SNP

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Select item 14908609181.

rs1490860918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:52764628 (GRCh38)
10:54524388 (GRCh37)
Canonical SPDI:: NC_000010.11:52764627:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.52764628A>G, NC_000010.10:g.54524388A>G, NG_008196.1:g.12073T>C

Select item 14906701862.

rs1490670186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:52767572 (GRCh38)
10:54527332 (GRCh37)
Canonical SPDI:: NC_000010.11:52767571:A:G
Gene:: MBL2 (Varview)
Functional Consequence:: 3_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_000010.11:g.52767572A>G, NC_000010.10:g.54527332A>G, NG_008196.1:g.9129T>C, NM_000242.3:c.*565T>C, NM_000242.2:c.*565T>C, NM_001378374.1:c.*565T>C, NM_001378373.1:c.*565T>C

Select item 14904908423.

rs1490490842 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:52772330 (GRCh38)
10:54532090 (GRCh37)
Canonical SPDI:: NC_000010.11:52772325:CTCTCT:CTCT
Gene:: MBL2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000142/2 (ALFA)
-=0.000064/17 (TOPMED)
-=0.000107/15 (GnomAD)
HGVS:: NC_000010.11:g.52772326CT[2], NC_000010.10:g.54532086CT[2], NG_008196.1:g.4370AG[2]

Select item 14899994304.

rs1489999430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:52772748 (GRCh38)
10:54532508 (GRCh37)
Canonical SPDI:: NC_000010.11:52772747:C:A
Gene:: MBL2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000546/1 (Korea1K)
A=0.001027/3 (KOREAN)
A=0.001699/28 (TOMMO)
HGVS:: NC_000010.11:g.52772748C>A, NC_000010.10:g.54532508C>A, NG_008196.1:g.3953G>T, NM_001378374.1:c.-36G>T, NM_001378373.1:c.-21G>T

Select item 14898814485.

rs1489881448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:52773871 (GRCh38)
10:54533631 (GRCh37)
Canonical SPDI:: NC_000010.11:52773870:G:A,NC_000010.11:52773870:G:T
Gene:: MBL2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.52773871G>A, NC_000010.11:g.52773871G>T, NC_000010.10:g.54533631G>A, NC_000010.10:g.54533631G>T, NG_008196.1:g.2830C>T, NG_008196.1:g.2830C>A

Select item 14898212436.

rs1489821243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:52765984 (GRCh38)
10:54525744 (GRCh37)
Canonical SPDI:: NC_000010.11:52765983:A:C
Gene:: MBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.52765984A>C, NC_000010.10:g.54525744A>C, NG_008196.1:g.10717T>G, NM_000242.3:c.*2153T>G, NM_000242.2:c.*2153T>G, NM_001378374.1:c.*2153T>G, NM_001378373.1:c.*2153T>G

Select item 14897488477.

rs1489748847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:52766176 (GRCh38)
10:54525936 (GRCh37)
Canonical SPDI:: NC_000010.11:52766175:A:T
Gene:: MBL2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000010.11:g.52766176A>T, NC_000010.10:g.54525936A>T, NG_008196.1:g.10525T>A, NM_000242.3:c.*1961T>A, NM_000242.2:c.*1961T>A, NM_001378374.1:c.*1961T>A, NM_001378373.1:c.*1961T>A

Select item 14896348188.

rs1489634818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:52765061 (GRCh38)
10:54524821 (GRCh37)
Canonical SPDI:: NC_000010.11:52765060:A:G
Gene:: MBL2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.52765061A>G, NC_000010.10:g.54524821A>G, NG_008196.1:g.11640T>C

Select item 14896051399.

rs1489605139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:52771013 (GRCh38)
10:54530773 (GRCh37)
Canonical SPDI:: NC_000010.11:52771012:T:C
Gene:: MBL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.52771013T>C, NC_000010.10:g.54530773T>C, NG_008196.1:g.5688A>G

Select item 148951049110.

rs1489510491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:52771698 (GRCh38)
10:54531458 (GRCh37)
Canonical SPDI:: NC_000010.11:52771697:A:C
Gene:: MBL2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.52771698A>C, NC_000010.10:g.54531458A>C, NG_008196.1:g.5003T>G, NM_000242.2:c.-63T>G

Select item 148930482811.

rs1489304828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:52766655 (GRCh38)
10:54526415 (GRCh37)
Canonical SPDI:: NC_000010.11:52766654:A:C
Gene:: MBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.52766655A>C, NC_000010.10:g.54526415A>C, NG_008196.1:g.10046T>G, NM_000242.3:c.*1482T>G, NM_000242.2:c.*1482T>G, NM_001378374.1:c.*1482T>G, NM_001378373.1:c.*1482T>G

Select item 148894474912.

rs1488944749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:52766074 (GRCh38)
10:54525834 (GRCh37)
Canonical SPDI:: NC_000010.11:52766073:T:C
Gene:: MBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.52766074T>C, NC_000010.10:g.54525834T>C, NG_008196.1:g.10627A>G, NM_000242.3:c.*2063A>G, NM_000242.2:c.*2063A>G, NM_001378374.1:c.*2063A>G, NM_001378373.1:c.*2063A>G

Select item 148877213613.

rs1488772136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:52766650 (GRCh38)
10:54526410 (GRCh37)
Canonical SPDI:: NC_000010.11:52766649:G:A,NC_000010.11:52766649:G:T
Gene:: MBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.52766650G>A, NC_000010.11:g.52766650G>T, NC_000010.10:g.54526410G>A, NC_000010.10:g.54526410G>T, NG_008196.1:g.10051C>T, NG_008196.1:g.10051C>A, NM_000242.3:c.*1487C>T, NM_000242.3:c.*1487C>A, NM_000242.2:c.*1487C>T, NM_000242.2:c.*1487C>A, NM_001378374.1:c.*1487C>T, NM_001378374.1:c.*1487C>A, NM_001378373.1:c.*1487C>T, NM_001378373.1:c.*1487C>A

Select item 148861973214.

rs1488619732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:52765552 (GRCh38)
10:54525312 (GRCh37)
Canonical SPDI:: NC_000010.11:52765551:G:A,NC_000010.11:52765551:G:T
Gene:: MBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.52765552G>A, NC_000010.11:g.52765552G>T, NC_000010.10:g.54525312G>A, NC_000010.10:g.54525312G>T, NG_008196.1:g.11149C>T, NG_008196.1:g.11149C>A, NM_000242.3:c.*2585C>T, NM_000242.3:c.*2585C>A, NM_000242.2:c.*2585C>T, NM_000242.2:c.*2585C>A, NM_001378374.1:c.*2585C>T, NM_001378374.1:c.*2585C>A, NM_001378373.1:c.*2585C>T, NM_001378373.1:c.*2585C>A

Select item 148787351015.

rs1487873510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:52772455 (GRCh38)
10:54532215 (GRCh37)
Canonical SPDI:: NC_000010.11:52772454:C:T
Gene:: MBL2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.52772455C>T, NC_000010.10:g.54532215C>T, NG_008196.1:g.4246G>A

Select item 148781175816.

rs1487811758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:52768632 (GRCh38)
10:54528392 (GRCh37)
Canonical SPDI:: NC_000010.11:52768631:A:C
Gene:: MBL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.52768632A>C, NC_000010.10:g.54528392A>C, NG_008196.1:g.8069T>G

Select item 148763066917.

rs1487630669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:52772732 (GRCh38)
10:54532492 (GRCh37)
Canonical SPDI:: NC_000010.11:52772731:C:G
Gene:: MBL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.52772732C>G, NC_000010.10:g.54532492C>G, NG_008196.1:g.3969G>C

Select item 148725526118.

rs1487255261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:52774226 (GRCh38)
10:54533986 (GRCh37)
Canonical SPDI:: NC_000010.11:52774225:G:C
Gene:: MBL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.52774226G>C, NC_000010.10:g.54533986G>C, NG_008196.1:g.2475C>G

Select item 148604270419.

rs1486042704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:52767667 (GRCh38)
10:54527427 (GRCh37)
Canonical SPDI:: NC_000010.11:52767666:T:C
Gene:: MBL2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.52767667T>C, NC_000010.10:g.54527427T>C, NG_008196.1:g.9034A>G, NM_000242.3:c.*470A>G, NM_000242.2:c.*470A>G, NM_001378374.1:c.*470A>G, NM_001378373.1:c.*470A>G

Select item 148591555920.

rs1485915559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:52774714 (GRCh38)
10:54534474 (GRCh37)
Canonical SPDI:: NC_000010.11:52774713:G:C
Gene:: MBL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.52774714G>C, NC_000010.10:g.54534474G>C, NG_008196.1:g.1987C>G

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