SNP Links for Gene (Select 1116) - SNP

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Select item 14906622021.

rs1490662202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:203181404 (GRCh38)
1:203150532 (GRCh37)
Canonical SPDI:: NC_000001.11:203181403:T:C
Gene:: CHI3L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.203181404T>C, NC_000001.10:g.203150532T>C, NG_013056.1:g.10391A>G, XM_047442873.1:c.*693A>G

Select item 14906322322.

rs1490632232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:203183395 (GRCh38)
1:203152523 (GRCh37)
Canonical SPDI:: NC_000001.11:203183394:T:C
Gene:: CHI3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.203183395T>C, NC_000001.10:g.203152523T>C, NG_013056.1:g.8400A>G

Select item 14905230413.

rs1490523041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:203179705 (GRCh38)
1:203148833 (GRCh37)
Canonical SPDI:: NC_000001.11:203179704:G:C
Gene:: CHI3L1 (Varview), MYBPH (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.203179705G>C, NC_000001.10:g.203148833G>C, NG_013056.1:g.12090C>G, XM_047442841.1:c.902C>G, XM_047442846.1:c.884C>G, XP_047298797.1:p.Pro301Arg, XP_047298802.1:p.Pro295Arg

Select item 14897922954.

rs1489792295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:203179276 (GRCh38)
1:203148404 (GRCh37)
Canonical SPDI:: NC_000001.11:203179275:C:G,NC_000001.11:203179275:C:T
Gene:: CHI3L1 (Varview), MYBPH (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.203179276C>G, NC_000001.11:g.203179276C>T, NC_000001.10:g.203148404C>G, NC_000001.10:g.203148404C>T, NG_013056.1:g.12519G>C, NG_013056.1:g.12519G>A, NM_001276.4:c.*169G>C, NM_001276.4:c.*169G>A, NM_001276.3:c.*169G>C, NM_001276.3:c.*169G>A, NM_001276.2:c.*169G>C, NM_001276.2:c.*169G>A, XM_047442840.1:c.*169G>C, XM_047442840.1:c.*169G>A, XM_047442841.1:c.*248G>C, XM_047442841.1:c.*248G>A, XM_047442846.1:c.*248G>C, XM_047442846.1:c.*248G>A, XM_047442847.1:c.*169G>C, XM_047442847.1:c.*169G>A, XM_047442848.1:c.*169G>C, XM_047442848.1:c.*169G>A

Select item 14897407955.

rs1489740795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:203180154 (GRCh38)
1:203149282 (GRCh37)
Canonical SPDI:: NC_000001.11:203180153:G:C
Gene:: CHI3L1 (Varview), MYBPH (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.203180154G>C, NC_000001.10:g.203149282G>C, NG_013056.1:g.11641C>G

Select item 14895727616.

rs1489572761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:203185312 (GRCh38)
1:203154440 (GRCh37)
Canonical SPDI:: NC_000001.11:203185311:T:A
Gene:: CHI3L1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.203185312T>A, NC_000001.10:g.203154440T>A, NG_013056.1:g.6483A>T, NM_001276.4:c.129A>T, NM_001276.3:c.129A>T, NM_001276.2:c.129A>T, XM_047442873.1:c.129A>T, XM_047442840.1:c.129A>T, XM_047442841.1:c.129A>T, XM_047442846.1:c.129A>T, XM_047442847.1:c.129A>T, XM_047442848.1:c.129A>T, XM_047442879.1:c.129A>T

Select item 14891850767.

rs1489185076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:203186419 (GRCh38)
1:203155547 (GRCh37)
Canonical SPDI:: NC_000001.11:203186418:T:C
Gene:: CHI3L1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.203186419T>C, NC_000001.10:g.203155547T>C, NG_013056.1:g.5376A>G

Select item 14889133848.

rs1488913384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:203186372 (GRCh38)
1:203155500 (GRCh37)
Canonical SPDI:: NC_000001.11:203186371:C:T
Gene:: CHI3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.203186372C>T, NC_000001.10:g.203155500C>T, NG_013056.1:g.5423G>A

Select item 14888776549.

rs1488877654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:203179743 (GRCh38)
1:203148871 (GRCh37)
Canonical SPDI:: NC_000001.11:203179742:G:A
Gene:: CHI3L1 (Varview), MYBPH (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00005/1 (ALFA)
A=0.00022/1 (Estonian)
HGVS:: NC_000001.11:g.203179743G>A, NC_000001.10:g.203148871G>A, NG_013056.1:g.12052C>T, XM_047442841.1:c.864C>T, XM_047442846.1:c.846C>T

Select item 148884831710.

rs1488848317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:203182685 (GRCh38)
1:203151813 (GRCh37)
Canonical SPDI:: NC_000001.11:203182684:G:A
Gene:: CHI3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.203182685G>A, NC_000001.10:g.203151813G>A, NG_013056.1:g.9110C>T

Select item 148820214711.

rs1488202147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:203185463 (GRCh38)
1:203154591 (GRCh37)
Canonical SPDI:: NC_000001.11:203185462:A:G
Gene:: CHI3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.203185463A>G, NC_000001.10:g.203154591A>G, NG_013056.1:g.6332T>C

Select item 148806438612.

rs1488064386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:203182248 (GRCh38)
1:203151376 (GRCh37)
Canonical SPDI:: NC_000001.11:203182247:A:C
Gene:: CHI3L1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.203182248A>C, NC_000001.10:g.203151376A>C, NG_013056.1:g.9547T>G, XM_047442873.1:c.662T>G, XM_047442879.1:c.644T>G, XP_047298829.1:p.Val221Gly, XP_047298835.1:p.Val215Gly

Select item 148800834713.

rs1488008347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:203179641 (GRCh38)
1:203148769 (GRCh37)
Canonical SPDI:: NC_000001.11:203179640:A:G
Gene:: CHI3L1 (Varview), MYBPH (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.203179641A>G, NC_000001.10:g.203148769A>G, NG_013056.1:g.12154T>C, XM_047442841.1:c.966T>C, XM_047442846.1:c.948T>C

Select item 148769060514.

rs1487690605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:203187200 (GRCh38)
1:203156328 (GRCh37)
Canonical SPDI:: NC_000001.11:203187199:C:A
Gene:: CHI3L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.203187200C>A, NC_000001.10:g.203156328C>A, NG_013056.1:g.4595G>T

Select item 148699190315.

rs1486991903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:203180466 (GRCh38)
1:203149594 (GRCh37)
Canonical SPDI:: NC_000001.11:203180465:T:C
Gene:: CHI3L1 (Varview), MYBPH (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.203180466T>C, NC_000001.10:g.203149594T>C, NG_013056.1:g.11329A>G

Select item 148690089316.

rs1486900893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:203185510 (GRCh38)
1:203154638 (GRCh37)
Canonical SPDI:: NC_000001.11:203185509:A:G
Gene:: CHI3L1 (Varview)
Functional Consequence:: intron_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_000001.11:g.203185510A>G, NC_000001.10:g.203154638A>G, NG_013056.1:g.6285T>C

Select item 148685026117.

rs1486850261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:203184504 (GRCh38)
1:203153632 (GRCh37)
Canonical SPDI:: NC_000001.11:203184503:T:C
Gene:: CHI3L1 (Varview)
Functional Consequence:: intron_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_000001.11:g.203184504T>C, NC_000001.10:g.203153632T>C, NG_013056.1:g.7291A>G

Select item 148665376118.

rs1486653761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:203186343 (GRCh38)
1:203155471 (GRCh37)
Canonical SPDI:: NC_000001.11:203186342:A:G
Gene:: CHI3L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.203186343A>G, NC_000001.10:g.203155471A>G, NG_013056.1:g.5452T>C, NM_001276.4:c.28T>C, NM_001276.3:c.28T>C, NM_001276.2:c.28T>C, XM_047442873.1:c.28T>C, XM_047442840.1:c.28T>C, XM_047442841.1:c.28T>C, XM_047442846.1:c.28T>C, XM_047442847.1:c.28T>C, XM_047442848.1:c.28T>C, XM_047442879.1:c.28T>C, NP_001267.2:p.Phe10Leu, XP_047298829.1:p.Phe10Leu, XP_047298796.1:p.Phe10Leu, XP_047298797.1:p.Phe10Leu, XP_047298802.1:p.Phe10Leu, XP_047298803.1:p.Phe10Leu, XP_047298804.1:p.Phe10Leu, XP_047298835.1:p.Phe10Leu

Select item 148658870019.

rs1486588700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:203182039 (GRCh38)
1:203151167 (GRCh37)
Canonical SPDI:: NC_000001.11:203182038:C:T
Gene:: CHI3L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.203182039C>T, NC_000001.10:g.203151167C>T, NG_013056.1:g.9756G>A, XM_047442873.1:c.*58G>A, XM_047442879.1:c.*58G>A

Select item 148626363220.

rs1486263632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:203188235 (GRCh38)
1:203157363 (GRCh37)
Canonical SPDI:: NC_000001.11:203188234:A:C
Gene:: CHI3L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.203188235A>C, NC_000001.10:g.203157363A>C, NG_013056.1:g.3560T>G