SNP Links for Gene (Select 149647) - SNP

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Select item 14913276711.

rs1491327671 has merged into rs375056378 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA [Show Flanks]
Chromosome:: 1:212623787 (GRCh38)
1:212797129 (GRCh37)
Canonical SPDI:: NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000001.11:212623769:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA
Gene:: GARIN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.212623771CA[8], NC_000001.11:g.212623771CA[9], NC_000001.11:g.212623771CA[10], NC_000001.11:g.212623771CA[11], NC_000001.11:g.212623771CA[12], NC_000001.11:g.212623771CA[13], NC_000001.11:g.212623771CA[15], NC_000001.11:g.212623771CA[16], NC_000001.11:g.212623771CA[17], NC_000001.11:g.212623771CA[18], NC_000001.11:g.212623771CA[19], NC_000001.11:g.212623771CA[20], NC_000001.10:g.212797113CA[8], NC_000001.10:g.212797113CA[9], NC_000001.10:g.212797113CA[10], NC_000001.10:g.212797113CA[11], NC_000001.10:g.212797113CA[12], NC_000001.10:g.212797113CA[13], NC_000001.10:g.212797113CA[15], NC_000001.10:g.212797113CA[16], NC_000001.10:g.212797113CA[17], NC_000001.10:g.212797113CA[18], NC_000001.10:g.212797113CA[19], NC_000001.10:g.212797113CA[20], NG_053140.1:g.4325CA[8], NG_053140.1:g.4325CA[9], NG_053140.1:g.4325CA[10], NG_053140.1:g.4325CA[11], NG_053140.1:g.4325CA[12], NG_053140.1:g.4325CA[13], NG_053140.1:g.4325CA[15], NG_053140.1:g.4325CA[16], NG_053140.1:g.4325CA[17], NG_053140.1:g.4325CA[18], NG_053140.1:g.4325CA[19], NG_053140.1:g.4325CA[20]

Select item 14908887432.

rs1490888743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:212623923 (GRCh38)
1:212797265 (GRCh37)
Canonical SPDI:: NC_000001.11:212623922:C:G
Gene:: GARIN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212623923C>G, NC_000001.10:g.212797265C>G, NG_053140.1:g.4477C>G

Select item 14908531233.

rs1490853123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:212624933 (GRCh38)
1:212798275 (GRCh37)
Canonical SPDI:: NC_000001.11:212624932:G:A,NC_000001.11:212624932:G:T
Gene:: GARIN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.212624933G>A, NC_000001.11:g.212624933G>T, NC_000001.10:g.212798275G>A, NC_000001.10:g.212798275G>T, NG_053140.1:g.5487G>A, NG_053140.1:g.5487G>T, NM_153606.4:c.56G>A, NM_153606.4:c.56G>T, NM_153606.3:c.56G>A, NM_153606.3:c.56G>T, NP_705834.2:p.Ser19Asn, NP_705834.2:p.Ser19Ile

Select item 14897935964.

rs1489793596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:212626465 (GRCh38)
1:212799807 (GRCh37)
Canonical SPDI:: NC_000001.11:212626464:C:T
Gene:: GARIN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.212626465C>T, NC_000001.10:g.212799807C>T, NG_053140.1:g.7019C>T, NM_153606.4:c.1588C>T, NM_153606.3:c.1588C>T

Select item 14887123035.

rs1488712303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212622946 (GRCh38)
1:212796288 (GRCh37)
Canonical SPDI:: NC_000001.11:212622945:A:G
Gene:: GARIN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.212622946A>G, NC_000001.10:g.212796288A>G, NG_053140.1:g.3500A>G

Select item 14874949466.

rs1487494946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:212624943 (GRCh38)
1:212798285 (GRCh37)
Canonical SPDI:: NC_000001.11:212624942:C:T
Gene:: GARIN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.212624943C>T, NC_000001.10:g.212798285C>T, NG_053140.1:g.5497C>T, NM_153606.4:c.66C>T, NM_153606.3:c.66C>T

Select item 14870027197.

rs1487002719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:212624530 (GRCh38)
1:212797872 (GRCh37)
Canonical SPDI:: NC_000001.11:212624529:G:C
Gene:: GARIN4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212624530G>C, NC_000001.10:g.212797872G>C, NG_053140.1:g.5084G>C, NM_153606.4:c.-348G>C, NM_153606.3:c.-348G>C

Select item 14864578488.

rs1486457848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212624955 (GRCh38)
1:212798297 (GRCh37)
Canonical SPDI:: NC_000001.11:212624954:G:A
Gene:: GARIN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.212624955G>A, NC_000001.10:g.212798297G>A, NG_053140.1:g.5509G>A, NM_153606.4:c.78G>A, NM_153606.3:c.78G>A

Select item 14848488559.

rs1484848855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212626325 (GRCh38)
1:212799667 (GRCh37)
Canonical SPDI:: NC_000001.11:212626324:G:A
Gene:: GARIN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (KOREAN)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212626325G>A, NC_000001.10:g.212799667G>A, NG_053140.1:g.6879G>A, NM_153606.4:c.1448G>A, NM_153606.3:c.1448G>A, NP_705834.2:p.Ser483Asn

Select item 148208698910.

rs1482086989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:212626912 (GRCh38)
1:212800254 (GRCh37)
Canonical SPDI:: NC_000001.11:212626911:G:C
Gene:: GARIN4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000001.11:g.212626912G>C, NC_000001.10:g.212800254G>C, NG_053140.1:g.7466G>C

Select item 148039029011.

rs1480390290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212625705 (GRCh38)
1:212799047 (GRCh37)
Canonical SPDI:: NC_000001.11:212625704:A:G
Gene:: GARIN4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.212625705A>G, NC_000001.10:g.212799047A>G, NG_053140.1:g.6259A>G, NM_153606.4:c.828A>G, NM_153606.3:c.828A>G

Select item 147948404212.

rs1479484042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:212625787 (GRCh38)
1:212799129 (GRCh37)
Canonical SPDI:: NC_000001.11:212625786:G:T
Gene:: GARIN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.212625787G>T, NC_000001.10:g.212799129G>T, NG_053140.1:g.6341G>T, NM_153606.4:c.910G>T, NM_153606.3:c.910G>T, NP_705834.2:p.Ala304Ser

Select item 147874346013.

rs1478743460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212626198 (GRCh38)
1:212799540 (GRCh37)
Canonical SPDI:: NC_000001.11:212626197:A:G
Gene:: GARIN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212626198A>G, NC_000001.10:g.212799540A>G, NG_053140.1:g.6752A>G, NM_153606.4:c.1321A>G, NM_153606.3:c.1321A>G, NP_705834.2:p.Arg441Gly

Select item 147768859414.

rs1477688594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:212622630 (GRCh38)
1:212795972 (GRCh37)
Canonical SPDI:: NC_000001.11:212622629:C:A,NC_000001.11:212622629:C:G
Gene:: GARIN4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.212622630C>A, NC_000001.11:g.212622630C>G, NC_000001.10:g.212795972C>A, NC_000001.10:g.212795972C>G, NG_029871.1:g.62276C>A, NG_029871.1:g.62276C>G, NG_053140.1:g.3184C>A, NG_053140.1:g.3184C>G

Select item 147747242815.

rs1477472428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212626268 (GRCh38)
1:212799610 (GRCh37)
Canonical SPDI:: NC_000001.11:212626267:T:C
Gene:: GARIN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.212626268T>C, NC_000001.10:g.212799610T>C, NG_053140.1:g.6822T>C, NM_153606.4:c.1391T>C, NM_153606.3:c.1391T>C, NP_705834.2:p.Phe464Ser

Select item 147685997516.

rs1476859975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:212626258 (GRCh38)
1:212799600 (GRCh37)
Canonical SPDI:: NC_000001.11:212626257:A:T
Gene:: GARIN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212626258A>T, NC_000001.10:g.212799600A>T, NG_053140.1:g.6812A>T, NM_153606.4:c.1381A>T, NM_153606.3:c.1381A>T, NP_705834.2:p.Arg461Trp

Select item 147624287717.

rs1476242877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:212625552 (GRCh38)
1:212798894 (GRCh37)
Canonical SPDI:: NC_000001.11:212625551:C:G
Gene:: GARIN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212625552C>G, NC_000001.10:g.212798894C>G, NG_053140.1:g.6106C>G, NM_153606.4:c.675C>G, NM_153606.3:c.675C>G, NP_705834.2:p.His225Gln

Select item 147611780218.

rs1476117802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:212624617 (GRCh38)
1:212797959 (GRCh37)
Canonical SPDI:: NC_000001.11:212624616:A:C
Gene:: GARIN4 (Varview)
Functional Consequence:: 5_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_000001.11:g.212624617A>C, NC_000001.10:g.212797959A>C, NG_053140.1:g.5171A>C, NM_153606.4:c.-261A>C, NM_153606.3:c.-261A>C

Select item 147444748519.

rs1474447485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:212622502 (GRCh38)
1:212795844 (GRCh37)
Canonical SPDI:: NC_000001.11:212622501:C:G
Gene:: GARIN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.212622502C>G, NC_000001.10:g.212795844C>G, NG_029871.1:g.62148C>G, NG_053140.1:g.3056C>G

Select item 147393165620.

rs1473931656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:212622960 (GRCh38)
1:212796302 (GRCh37)
Canonical SPDI:: NC_000001.11:212622959:C:A
Gene:: GARIN4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.212622960C>A, NC_000001.10:g.212796302C>A, NG_053140.1:g.3514C>A

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