SNP Links for Nucleotide (Select 767961976) - SNP

Links from Nucleotide

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Select item 14908329081.

rs1490832908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:46287297 (GRCh38)
10:47658533 (GRCh37)
Canonical SPDI:: NC_000010.11:46287296:T:A
Gene:: ANTXRL (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.46287297T>A, NW_003871068.1:g.558412T>A, NC_000010.10:g.47658533T>A, XM_006717684.4:c.35T>A, XM_006717684.3:c.35T>A, XM_006717684.2:c.35T>A, XM_006717684.1:c.35T>A, NM_001278688.3:c.35T>A, NM_001278688.2:c.35T>A, NM_001278688.1:c.35T>A, XM_011539430.3:c.35T>A, XM_011539430.2:c.35T>A, XM_011539430.1:c.35T>A, XR_945612.2:n.301T>A, XR_945612.1:n.301T>A, XR_945614.2:n.301T>A, XR_945614.1:n.301T>A, XM_011539441.1:c.35T>A, XR_945615.1:n.301T>A, XM_011539442.1:c.35T>A, XP_006717747.1:p.Leu12Gln, NP_001265617.1:p.Leu12Gln, XP_011537732.1:p.Leu12Gln, XP_011537743.1:p.Leu12Gln, XP_011537744.1:p.Leu12Gln

Select item 14898375292.

rs1489837529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:46287374 (GRCh38)
10:47658610 (GRCh37)
Canonical SPDI:: NC_000010.11:46287373:A:G
Gene:: ANTXRL (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_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.46287374A>G, NW_003871068.1:g.558489A>G, NC_000010.10:g.47658610A>G, XM_006717684.4:c.112A>G, XM_006717684.3:c.112A>G, XM_006717684.2:c.112A>G, XM_006717684.1:c.112A>G, NM_001278688.3:c.112A>G, NM_001278688.2:c.112A>G, NM_001278688.1:c.112A>G, XM_011539430.3:c.112A>G, XM_011539430.2:c.112A>G, XM_011539430.1:c.112A>G, XR_945612.2:n.378A>G, XR_945612.1:n.378A>G, XR_945614.2:n.378A>G, XR_945614.1:n.378A>G, NM_001354208.2:c.-992A>G, NM_001354208.1:c.-992A>G, XM_047424705.1:c.-174A>G, NR_003601.1:n.79A>G, XM_047424706.1:c.-174A>G, XM_047424704.1:c.-174A>G, XM_011539441.1:c.112A>G, XR_945615.1:n.378A>G, XM_011539442.1:c.112A>G, XP_006717747.1:p.Arg38Gly, NP_001265617.1:p.Arg38Gly, XP_011537732.1:p.Arg38Gly, XP_011537743.1:p.Arg38Gly, XP_011537744.1:p.Arg38Gly

Select item 14856417783.

rs1485641778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:46302752 (GRCh38)
10:47673988 (GRCh37)
Canonical SPDI:: NC_000010.11:46302751:G:A
Gene:: ANTXRL (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000048/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.46302752G>A, NW_003871068.1:g.573867G>A, NC_000010.10:g.47673988G>A, XM_006717684.4:c.827G>A, XM_006717684.3:c.827G>A, XM_006717684.2:c.827G>A, XM_006717684.1:c.827G>A, XM_011539437.3:c.374G>A, XM_011539437.2:c.374G>A, XM_011539437.1:c.374G>A, XM_011539438.3:c.374G>A, XM_011539438.2:c.374G>A, XM_011539438.1:c.374G>A, NM_001278688.3:c.827G>A, NM_001278688.2:c.827G>A, NM_001278688.1:c.827G>A, XM_011539430.3:c.827G>A, XM_011539430.2:c.827G>A, XM_011539430.1:c.827G>A, XM_011539433.3:c.494G>A, XM_011539433.2:c.494G>A, XM_011539433.1:c.494G>A, XM_011539431.3:c.620G>A, XM_011539431.2:c.620G>A, XM_011539431.1:c.620G>A, XM_011539434.3:c.494G>A, XM_011539434.2:c.494G>A, XM_011539434.1:c.494G>A, XM_017015819.2:c.374G>A, XM_017015819.1:c.374G>A, XR_945612.2:n.1093G>A, XR_945612.1:n.1093G>A, XR_945614.2:n.1093G>A, XR_945614.1:n.1093G>A, NM_001354208.2:c.-277G>A, NM_001354208.1:c.-277G>A, XM_017015818.2:c.551G>A, XM_017015818.1:c.551G>A, XM_047424708.1:c.374G>A, XM_047424705.1:c.542G>A, NR_003601.1:n.794G>A, XM_047424706.1:c.542G>A, XM_047424704.1:c.542G>A, XM_011539441.1:c.827G>A, XM_047424707.1:c.494G>A, XR_945615.1:n.1093G>A, XM_011539442.1:c.827G>A, XP_006717747.1:p.Gly276Asp, XP_011537739.1:p.Gly125Asp, XP_011537740.1:p.Gly125Asp, NP_001265617.1:p.Gly276Asp, XP_011537732.1:p.Gly276Asp, XP_011537735.1:p.Gly165Asp, XP_011537733.1:p.Gly207Asp, XP_011537736.1:p.Gly165Asp, XP_016871308.1:p.Gly125Asp, XP_016871307.1:p.Gly184Asp, XP_047280664.1:p.Gly125Asp, XP_047280661.1:p.Gly181Asp, XP_047280662.1:p.Gly181Asp, XP_047280660.1:p.Gly181Asp, XP_011537743.1:p.Gly276Asp, XP_047280663.1:p.Gly165Asp, XP_011537744.1:p.Gly276Asp

Select item 14856171174.

rs1485617117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:46308288 (GRCh38)
10:47679524 (GRCh37)
Canonical SPDI:: NC_000010.11:46308287:A:G
Gene:: ANTXRL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000042/11 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000010.11:g.46308288A>G, NW_003871068.1:g.579403A>G, NC_000010.10:g.47679524A>G, XR_945615.1:n.1728A>G, XM_011539442.1:c.*14A>G

Select item 14831796535.

rs1483179653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:46308311 (GRCh38)
10:47679547 (GRCh37)
Canonical SPDI:: NC_000010.11:46308310:G:A
Gene:: ANTXRL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.46308311G>A, NW_003871068.1:g.579426G>A, NC_000010.10:g.47679547G>A, XR_945615.1:n.1751G>A, XM_011539442.1:c.*37G>A

Select item 14817328716.

rs1481732871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:46306827 (GRCh38)
10:47678063 (GRCh37)
Canonical SPDI:: NC_000010.11:46306826:A:G
Gene:: ANTXRL (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.46306827A>G, NW_003871068.1:g.577942A>G, NC_000010.10:g.47678063A>G, XM_006717684.4:c.920A>G, XM_006717684.3:c.920A>G, XM_006717684.2:c.920A>G, XM_006717684.1:c.920A>G, XM_011539437.3:c.467A>G, XM_011539437.2:c.467A>G, XM_011539437.1:c.467A>G, XM_011539438.3:c.467A>G, XM_011539438.2:c.467A>G, XM_011539438.1:c.467A>G, NM_001278688.3:c.920A>G, NM_001278688.2:c.920A>G, NM_001278688.1:c.920A>G, XM_011539430.3:c.920A>G, XM_011539430.2:c.920A>G, XM_011539430.1:c.920A>G, XM_011539433.3:c.587A>G, XM_011539433.2:c.587A>G, XM_011539433.1:c.587A>G, XM_011539431.3:c.713A>G, XM_011539431.2:c.713A>G, XM_011539431.1:c.713A>G, XM_011539434.3:c.587A>G, XM_011539434.2:c.587A>G, XM_011539434.1:c.587A>G, XM_017015819.2:c.467A>G, XM_017015819.1:c.467A>G, XR_945612.2:n.1186A>G, XR_945612.1:n.1186A>G, XR_945614.2:n.1186A>G, XR_945614.1:n.1186A>G, NM_001354208.2:c.-184A>G, NM_001354208.1:c.-184A>G, XM_017015818.2:c.644A>G, XM_017015818.1:c.644A>G, XM_047424708.1:c.467A>G, XM_047424705.1:c.635A>G, NR_003601.1:n.887A>G, XM_047424706.1:c.635A>G, XM_047424704.1:c.635A>G, XM_011539441.1:c.920A>G, XM_047424707.1:c.587A>G, XR_945615.1:n.1186A>G, XM_011539442.1:c.920A>G, XP_006717747.1:p.Asn307Ser, XP_011537739.1:p.Asn156Ser, XP_011537740.1:p.Asn156Ser, NP_001265617.1:p.Asn307Ser, XP_011537732.1:p.Asn307Ser, XP_011537735.1:p.Asn196Ser, XP_011537733.1:p.Asn238Ser, XP_011537736.1:p.Asn196Ser, XP_016871308.1:p.Asn156Ser, XP_016871307.1:p.Asn215Ser, XP_047280664.1:p.Asn156Ser, XP_047280661.1:p.Asn212Ser, XP_047280662.1:p.Asn212Ser, XP_047280660.1:p.Asn212Ser, XP_011537743.1:p.Asn307Ser, XP_047280663.1:p.Asn196Ser, XP_011537744.1:p.Asn307Ser

Select item 14812653997.

rs1481265399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:46287357 (GRCh38)
10:47658593 (GRCh37)
Canonical SPDI:: NC_000010.11:46287356:A:G
Gene:: ANTXRL (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.46287357A>G, NW_003871068.1:g.558472A>G, NC_000010.10:g.47658593A>G, XM_006717684.4:c.95A>G, XM_006717684.3:c.95A>G, XM_006717684.2:c.95A>G, XM_006717684.1:c.95A>G, NM_001278688.3:c.95A>G, NM_001278688.2:c.95A>G, NM_001278688.1:c.95A>G, XM_011539430.3:c.95A>G, XM_011539430.2:c.95A>G, XM_011539430.1:c.95A>G, XR_945612.2:n.361A>G, XR_945612.1:n.361A>G, XR_945614.2:n.361A>G, XR_945614.1:n.361A>G, NM_001354208.2:c.-1009A>G, NM_001354208.1:c.-1009A>G, XM_047424705.1:c.-191A>G, NR_003601.1:n.62A>G, XM_047424706.1:c.-191A>G, XM_047424704.1:c.-191A>G, XM_011539441.1:c.95A>G, XR_945615.1:n.361A>G, XM_011539442.1:c.95A>G, XP_006717747.1:p.Tyr32Cys, NP_001265617.1:p.Tyr32Cys, XP_011537732.1:p.Tyr32Cys, XP_011537743.1:p.Tyr32Cys, XP_011537744.1:p.Tyr32Cys

Select item 14794446868.

rs1479444686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:46287483 (GRCh38)
10:47658719 (GRCh37)
Canonical SPDI:: NC_000010.11:46287482:C:T
Gene:: ANTXRL (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.46287483C>T, NW_003871068.1:g.558598C>T, NC_000010.10:g.47658719C>T, XM_006717684.4:c.221C>T, XM_006717684.3:c.221C>T, XM_006717684.2:c.221C>T, XM_006717684.1:c.221C>T, NM_001278688.3:c.221C>T, NM_001278688.2:c.221C>T, NM_001278688.1:c.221C>T, XM_011539430.3:c.221C>T, XM_011539430.2:c.221C>T, XM_011539430.1:c.221C>T, XR_945612.2:n.487C>T, XR_945612.1:n.487C>T, XR_945614.2:n.487C>T, XR_945614.1:n.487C>T, NM_001354208.2:c.-883C>T, NM_001354208.1:c.-883C>T, XM_047424705.1:c.-65C>T, NR_003601.1:n.188C>T, XM_047424706.1:c.-65C>T, XM_047424704.1:c.-65C>T, XM_011539441.1:c.221C>T, XR_945615.1:n.487C>T, XM_011539442.1:c.221C>T, XP_006717747.1:p.Ser74Leu, NP_001265617.1:p.Ser74Leu, XP_011537732.1:p.Ser74Leu, XP_011537743.1:p.Ser74Leu, XP_011537744.1:p.Ser74Leu

Select item 14752051099.

rs1475205109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:46308351 (GRCh38)
10:47679587 (GRCh37)
Canonical SPDI:: NC_000010.11:46308350:G:C
Gene:: ANTXRL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_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.46308351G>C, NW_003871068.1:g.579466G>C, NC_000010.10:g.47679587G>C, XR_945615.1:n.1791G>C, XM_011539442.1:c.*77G>C

Select item 147459936910.

rs1474599369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:46308276 (GRCh38)
10:47679512 (GRCh37)
Canonical SPDI:: NC_000010.11:46308275:G:A
Gene:: ANTXRL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00006/16 (TOPMED)
A=0.000086/12 (GnomAD)
HGVS:: NC_000010.11:g.46308276G>A, NW_003871068.1:g.579391G>A, NC_000010.10:g.47679512G>A, XR_945615.1:n.1716G>A, XM_011539442.1:c.*2G>A

Select item 147414223311.

rs1474142233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:46287175 (GRCh38)
10:47658411 (GRCh37)
Canonical SPDI:: NC_000010.11:46287174:G:A
Gene:: ANTXRL (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.46287175G>A, NW_003871068.1:g.558290G>A, NC_000010.10:g.47658411G>A, XM_006717684.4:c.-88G>A, XM_006717684.3:c.-88G>A, XM_006717684.2:c.-88G>A, XM_006717684.1:c.-88G>A, NM_001278688.3:c.-88G>A, NM_001278688.2:c.-88G>A, NM_001278688.1:c.-88G>A, XM_011539430.3:c.-88G>A, XM_011539430.2:c.-88G>A, XM_011539430.1:c.-88G>A, XR_945612.2:n.179G>A, XR_945612.1:n.179G>A, XR_945614.2:n.179G>A, XR_945614.1:n.179G>A, XM_011539441.1:c.-88G>A, XR_945615.1:n.179G>A, XM_011539442.1:c.-88G>A

Select item 147260347812.

rs1472603478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:46308368 (GRCh38)
10:47679604 (GRCh37)
Canonical SPDI:: NC_000010.11:46308367:G:A,NC_000010.11:46308367:G:T
Gene:: ANTXRL (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.00005/7 (GnomAD)
T=0.000142/2 (TOMMO)
A=0.000174/46 (TOPMED)
HGVS:: NC_000010.11:g.46308368G>A, NC_000010.11:g.46308368G>T, NW_003871068.1:g.579483G>A, NW_003871068.1:g.579483G>T, NC_000010.10:g.47679604G>A, NC_000010.10:g.47679604G>T, XR_945615.1:n.1808G>A, XR_945615.1:n.1808G>T, XM_011539442.1:c.*94G>A, XM_011539442.1:c.*94G>T

Select item 147051135313.

rs1470511353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:46287076 (GRCh38)
10:47658312 (GRCh37)
Canonical SPDI:: NC_000010.11:46287075:G:A
Gene:: ANTXRL (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.46287076G>A, NW_003871068.1:g.558191G>A, NC_000010.10:g.47658312G>A, XM_006717684.4:c.-187G>A, XM_006717684.3:c.-187G>A, XM_006717684.2:c.-187G>A, XM_006717684.1:c.-187G>A, NM_001278688.3:c.-187G>A, NM_001278688.2:c.-187G>A, NM_001278688.1:c.-187G>A, XM_011539430.3:c.-187G>A, XM_011539430.2:c.-187G>A, XM_011539430.1:c.-187G>A, XR_945612.2:n.80G>A, XR_945612.1:n.80G>A, XR_945614.2:n.80G>A, XR_945614.1:n.80G>A, XM_047424706.1:c.-229G>A, XM_047424704.1:c.-234G>A, XM_011539441.1:c.-187G>A, XR_945615.1:n.80G>A, XM_011539442.1:c.-187G>A

Select item 147030749614.

rs1470307496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:46287281 (GRCh38)
10:47658517 (GRCh37)
Canonical SPDI:: NC_000010.11:46287280:C:T
Gene:: ANTXRL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.46287281C>T, NW_003871068.1:g.558396C>T, NC_000010.10:g.47658517C>T, XM_006717684.4:c.19C>T, XM_006717684.3:c.19C>T, XM_006717684.2:c.19C>T, XM_006717684.1:c.19C>T, NM_001278688.3:c.19C>T, NM_001278688.2:c.19C>T, NM_001278688.1:c.19C>T, XM_011539430.3:c.19C>T, XM_011539430.2:c.19C>T, XM_011539430.1:c.19C>T, XR_945612.2:n.285C>T, XR_945612.1:n.285C>T, XR_945614.2:n.285C>T, XR_945614.1:n.285C>T, XM_011539441.1:c.19C>T, XR_945615.1:n.285C>T, XM_011539442.1:c.19C>T

Select item 146441665515.

rs1464416655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:46297303 (GRCh38)
10:47668539 (GRCh37)
Canonical SPDI:: NC_000010.11:46297302:A:G
Gene:: ANTXRL (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.46297303A>G, NW_003871068.1:g.568418A>G, NC_000010.10:g.47668539A>G, XM_006717684.4:c.560A>G, XM_006717684.3:c.560A>G, XM_006717684.2:c.560A>G, XM_006717684.1:c.560A>G, XM_011539437.3:c.107A>G, XM_011539437.2:c.107A>G, XM_011539437.1:c.107A>G, XM_011539438.3:c.107A>G, XM_011539438.2:c.107A>G, XM_011539438.1:c.107A>G, NM_001278688.3:c.560A>G, NM_001278688.2:c.560A>G, NM_001278688.1:c.560A>G, XM_011539430.3:c.560A>G, XM_011539430.2:c.560A>G, XM_011539430.1:c.560A>G, XM_011539433.3:c.227A>G, XM_011539433.2:c.227A>G, XM_011539433.1:c.227A>G, XM_011539431.3:c.353A>G, XM_011539431.2:c.353A>G, XM_011539431.1:c.353A>G, XM_011539434.3:c.227A>G, XM_011539434.2:c.227A>G, XM_011539434.1:c.227A>G, XM_017015819.2:c.107A>G, XM_017015819.1:c.107A>G, XR_945612.2:n.826A>G, XR_945612.1:n.826A>G, XR_945614.2:n.826A>G, XR_945614.1:n.826A>G, NM_001354208.2:c.-544A>G, NM_001354208.1:c.-544A>G, XM_017015818.2:c.284A>G, XM_017015818.1:c.284A>G, XM_047424708.1:c.107A>G, XM_047424705.1:c.275A>G, NR_003601.1:n.527A>G, XM_047424706.1:c.275A>G, XM_047424704.1:c.275A>G, XM_011539441.1:c.560A>G, XM_047424707.1:c.227A>G, XR_945615.1:n.826A>G, XM_011539442.1:c.560A>G, XP_006717747.1:p.His187Arg, XP_011537739.1:p.His36Arg, XP_011537740.1:p.His36Arg, NP_001265617.1:p.His187Arg, XP_011537732.1:p.His187Arg, XP_011537735.1:p.His76Arg, XP_011537733.1:p.His118Arg, XP_011537736.1:p.His76Arg, XP_016871308.1:p.His36Arg, XP_016871307.1:p.His95Arg, XP_047280664.1:p.His36Arg, XP_047280661.1:p.His92Arg, XP_047280662.1:p.His92Arg, XP_047280660.1:p.His92Arg, XP_011537743.1:p.His187Arg, XP_047280663.1:p.His76Arg, XP_011537744.1:p.His187Arg

Select item 146119510516.

rs1461195105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:46308402 (GRCh38)
10:47679638 (GRCh37)
Canonical SPDI:: NC_000010.11:46308401:T:C
Gene:: ANTXRL (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003962/47 (ALFA)
C=0.000722/75 (GnomAD)
C=0.022372/63 (KOREAN)
HGVS:: NC_000010.11:g.46308402T>C, NW_003871068.1:g.579517T>C, NC_000010.10:g.47679638T>C, XR_945615.1:n.1842T>C, XM_011539442.1:c.*128T>C

Select item 146063476217.

rs1460634762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:46287183 (GRCh38)
10:47658419 (GRCh37)
Canonical SPDI:: NC_000010.11:46287182:A:G
Gene:: ANTXRL (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.46287183A>G, NW_003871068.1:g.558298A>G, NC_000010.10:g.47658419A>G, XM_006717684.4:c.-80A>G, XM_006717684.3:c.-80A>G, XM_006717684.2:c.-80A>G, XM_006717684.1:c.-80A>G, NM_001278688.3:c.-80A>G, NM_001278688.2:c.-80A>G, NM_001278688.1:c.-80A>G, XM_011539430.3:c.-80A>G, XM_011539430.2:c.-80A>G, XM_011539430.1:c.-80A>G, XR_945612.2:n.187A>G, XR_945612.1:n.187A>G, XR_945614.2:n.187A>G, XR_945614.1:n.187A>G, XM_011539441.1:c.-80A>G, XR_945615.1:n.187A>G, XM_011539442.1:c.-80A>G

Select item 145864966118.

rs1458649661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:46296091 (GRCh38)
10:47667327 (GRCh37)
Canonical SPDI:: NC_000010.11:46296090:A:C
Gene:: ANTXRL (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.46296091A>C, NW_003871068.1:g.567206A>C, NC_000010.10:g.47667327A>C, XM_006717684.4:c.465A>C, XM_006717684.3:c.465A>C, XM_006717684.2:c.465A>C, XM_006717684.1:c.465A>C, XM_011539437.3:c.12A>C, XM_011539437.2:c.12A>C, XM_011539437.1:c.12A>C, XM_011539438.3:c.12A>C, XM_011539438.2:c.12A>C, XM_011539438.1:c.12A>C, NM_001278688.3:c.465A>C, NM_001278688.2:c.465A>C, NM_001278688.1:c.465A>C, XM_011539430.3:c.465A>C, XM_011539430.2:c.465A>C, XM_011539430.1:c.465A>C, XM_011539433.3:c.132A>C, XM_011539433.2:c.132A>C, XM_011539433.1:c.132A>C, XM_011539431.3:c.258A>C, XM_011539431.2:c.258A>C, XM_011539431.1:c.258A>C, XM_011539434.3:c.132A>C, XM_011539434.2:c.132A>C, XM_011539434.1:c.132A>C, XM_017015819.2:c.12A>C, XM_017015819.1:c.12A>C, XR_945612.2:n.731A>C, XR_945612.1:n.731A>C, XR_945614.2:n.731A>C, XR_945614.1:n.731A>C, NM_001354208.2:c.-639A>C, NM_001354208.1:c.-639A>C, XM_017015818.2:c.189A>C, XM_017015818.1:c.189A>C, XM_047424708.1:c.12A>C, XM_047424705.1:c.180A>C, NR_003601.1:n.432A>C, XM_047424706.1:c.180A>C, XM_047424704.1:c.180A>C, XM_011539441.1:c.465A>C, XM_047424707.1:c.132A>C, XR_945615.1:n.731A>C, XM_011539442.1:c.465A>C

Select item 145811267419.

rs1458112674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:46306817 (GRCh38)
10:47678053 (GRCh37)
Canonical SPDI:: NC_000010.11:46306816:A:G
Gene:: ANTXRL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000046/6 (GnomAD_exomes)
HGVS:: NC_000010.11:g.46306817A>G, NW_003871068.1:g.577932A>G, NC_000010.10:g.47678053A>G, XM_006717684.4:c.910A>G, XM_006717684.3:c.910A>G, XM_006717684.2:c.910A>G, XM_006717684.1:c.910A>G, XM_011539437.3:c.457A>G, XM_011539437.2:c.457A>G, XM_011539437.1:c.457A>G, XM_011539438.3:c.457A>G, XM_011539438.2:c.457A>G, XM_011539438.1:c.457A>G, NM_001278688.3:c.910A>G, NM_001278688.2:c.910A>G, NM_001278688.1:c.910A>G, XM_011539430.3:c.910A>G, XM_011539430.2:c.910A>G, XM_011539430.1:c.910A>G, XM_011539433.3:c.577A>G, XM_011539433.2:c.577A>G, XM_011539433.1:c.577A>G, XM_011539431.3:c.703A>G, XM_011539431.2:c.703A>G, XM_011539431.1:c.703A>G, XM_011539434.3:c.577A>G, XM_011539434.2:c.577A>G, XM_011539434.1:c.577A>G, XM_017015819.2:c.457A>G, XM_017015819.1:c.457A>G, XR_945612.2:n.1176A>G, XR_945612.1:n.1176A>G, XR_945614.2:n.1176A>G, XR_945614.1:n.1176A>G, NM_001354208.2:c.-194A>G, NM_001354208.1:c.-194A>G, XM_017015818.2:c.634A>G, XM_017015818.1:c.634A>G, XM_047424708.1:c.457A>G, XM_047424705.1:c.625A>G, NR_003601.1:n.877A>G, XM_047424706.1:c.625A>G, XM_047424704.1:c.625A>G, XM_011539441.1:c.910A>G, XM_047424707.1:c.577A>G, XR_945615.1:n.1176A>G, XM_011539442.1:c.910A>G, XP_006717747.1:p.Ser304Gly, XP_011537739.1:p.Ser153Gly, XP_011537740.1:p.Ser153Gly, NP_001265617.1:p.Ser304Gly, XP_011537732.1:p.Ser304Gly, XP_011537735.1:p.Ser193Gly, XP_011537733.1:p.Ser235Gly, XP_011537736.1:p.Ser193Gly, XP_016871308.1:p.Ser153Gly, XP_016871307.1:p.Ser212Gly, XP_047280664.1:p.Ser153Gly, XP_047280661.1:p.Ser209Gly, XP_047280662.1:p.Ser209Gly, XP_047280660.1:p.Ser209Gly, XP_011537743.1:p.Ser304Gly, XP_047280663.1:p.Ser193Gly, XP_011537744.1:p.Ser304Gly

Select item 145373080120.

rs1453730801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:46287161 (GRCh38)
10:47658397 (GRCh37)
Canonical SPDI:: NC_000010.11:46287160:C:T
Gene:: ANTXRL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000216/4 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000010.11:g.46287161C>T, NW_003871068.1:g.558276C>T, NC_000010.10:g.47658397C>T, XM_006717684.4:c.-102C>T, XM_006717684.3:c.-102C>T, XM_006717684.2:c.-102C>T, XM_006717684.1:c.-102C>T, NM_001278688.3:c.-102C>T, NM_001278688.2:c.-102C>T, NM_001278688.1:c.-102C>T, XM_011539430.3:c.-102C>T, XM_011539430.2:c.-102C>T, XM_011539430.1:c.-102C>T, XR_945612.2:n.165C>T, XR_945612.1:n.165C>T, XR_945614.2:n.165C>T, XR_945614.1:n.165C>T, XM_011539441.1:c.-102C>T, XR_945615.1:n.165C>T, XM_011539442.1:c.-102C>T

dbSNP

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