SNP Links for Nucleotide (Select 208022656) - SNP

Links from Nucleotide

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Select item 14909505781.

rs1490950578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:69013557 (GRCh38)
2:69240689 (GRCh37)
Canonical SPDI:: NC_000002.12:69013556:A:G
Gene:: ANTXR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.69013557A>G, NC_000002.11:g.69240689A>G, NG_012649.1:g.5414A>G, NM_032208.3:c.58A>G, NM_032208.2:c.58A>G, NM_018153.3:c.58A>G, NM_053034.2:c.58A>G, NM_001410840.1:c.58A>G, XM_017005076.3:c.58A>G, XM_017005076.2:c.58A>G, XM_017005076.1:c.58A>G, XM_017005075.3:c.58A>G, XM_017005077.3:c.58A>G, XM_017005077.2:c.58A>G, XM_017005077.1:c.58A>G, NP_115584.1:p.Thr20Ala, NP_060623.2:p.Thr20Ala, NP_444262.1:p.Thr20Ala, XP_016860565.1:p.Thr20Ala, XP_016860564.1:p.Thr20Ala, XP_016860566.1:p.Thr20Ala

Select item 14908296892.

rs1490829689 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:69145837 (GRCh38)
2:69372970 (GRCh37)
Canonical SPDI:: NC_000002.12:69145837:GG:GGG
Gene:: ANTXR1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.69145839dup, NC_000002.11:g.69372971dup, NG_012649.1:g.137696dup, NM_018153.3:c.*463dup

Select item 14903394913.

rs1490339491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:69146287 (GRCh38)
2:69373419 (GRCh37)
Canonical SPDI:: NC_000002.12:69146286:G:C
Gene:: ANTXR1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,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_000002.12:g.69146287G>C, NC_000002.11:g.69373419G>C, NG_012649.1:g.138144G>C, NM_018153.3:c.*911G>C

Select item 14900957434.

rs1490095743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69013255 (GRCh38)
2:69240387 (GRCh37)
Canonical SPDI:: NC_000002.12:69013254:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.69013255C>T, NC_000002.11:g.69240387C>T, NG_012649.1:g.5112C>T, NM_032208.3:c.-245C>T, NM_032208.2:c.-245C>T, NM_018153.3:c.-245C>T, NM_053034.2:c.-245C>T, NM_001410840.1:c.-245C>T, XM_017005076.3:c.-245C>T, XM_017005075.3:c.-245C>T, XM_017005077.3:c.-245C>T

Select item 14900623205.

rs1490062320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:69013384 (GRCh38)
2:69240516 (GRCh37)
Canonical SPDI:: NC_000002.12:69013383:C:A,NC_000002.12:69013383:C:G,NC_000002.12:69013383:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.69013384C>A, NC_000002.12:g.69013384C>G, NC_000002.12:g.69013384C>T, NC_000002.11:g.69240516C>A, NC_000002.11:g.69240516C>G, NC_000002.11:g.69240516C>T, NG_012649.1:g.5241C>A, NG_012649.1:g.5241C>G, NG_012649.1:g.5241C>T, NM_032208.3:c.-116C>A, NM_032208.3:c.-116C>G, NM_032208.3:c.-116C>T, NM_032208.2:c.-116C>A, NM_032208.2:c.-116C>G, NM_032208.2:c.-116C>T, NM_018153.3:c.-116C>A, NM_018153.3:c.-116C>G, NM_018153.3:c.-116C>T, NM_053034.2:c.-116C>A, NM_053034.2:c.-116C>G, NM_053034.2:c.-116C>T, NM_001410840.1:c.-116C>A, NM_001410840.1:c.-116C>G, NM_001410840.1:c.-116C>T, XM_017005076.3:c.-116C>A, XM_017005076.3:c.-116C>G, XM_017005076.3:c.-116C>T, XM_017005076.2:c.-116C>A, XM_017005076.2:c.-116C>G, XM_017005076.2:c.-116C>T, XM_017005076.1:c.-116C>A, XM_017005076.1:c.-116C>G, XM_017005076.1:c.-116C>T, XM_017005075.3:c.-116C>A, XM_017005075.3:c.-116C>G, XM_017005075.3:c.-116C>T, XM_017005077.3:c.-116C>A, XM_017005077.3:c.-116C>G, XM_017005077.3:c.-116C>T, XM_017005077.2:c.-116C>A, XM_017005077.2:c.-116C>G, XM_017005077.2:c.-116C>T, XM_017005077.1:c.-116C>A, XM_017005077.1:c.-116C>G, XM_017005077.1:c.-116C>T

Select item 14900175096.

rs1490017509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69013511 (GRCh38)
2:69240643 (GRCh37)
Canonical SPDI:: NC_000002.12:69013510:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.69013511G>A, NC_000002.11:g.69240643G>A, NG_012649.1:g.5368G>A, NM_032208.3:c.12G>A, NM_032208.2:c.12G>A, NM_018153.3:c.12G>A, NM_053034.2:c.12G>A, NM_001410840.1:c.12G>A, XM_017005076.3:c.12G>A, XM_017005076.2:c.12G>A, XM_017005076.1:c.12G>A, XM_017005075.3:c.12G>A, XM_017005077.3:c.12G>A, XM_017005077.2:c.12G>A, XM_017005077.1:c.12G>A

Select item 14880331217.

rs1488033121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:69145910 (GRCh38)
2:69373042 (GRCh37)
Canonical SPDI:: NC_000002.12:69145909:A:C
Gene:: ANTXR1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.69145910A>C, NC_000002.11:g.69373042A>C, NG_012649.1:g.137767A>C, NM_018153.3:c.*534A>C

Select item 14860630208.

rs1486063020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:69123080 (GRCh38)
2:69350212 (GRCh37)
Canonical SPDI:: NC_000002.12:69123079:T:C
Gene:: ANTXR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.69123080T>C, NC_000002.11:g.69350212T>C, NG_012649.1:g.114937T>C, NM_032208.3:c.866T>C, NM_032208.2:c.866T>C, NM_018153.3:c.866T>C, NM_053034.2:c.866T>C, NM_001410840.1:c.866T>C, XM_017005076.3:c.866T>C, XM_017005076.2:c.866T>C, XM_017005076.1:c.866T>C, XM_017005075.3:c.866T>C, XM_017005077.3:c.866T>C, XM_017005077.2:c.866T>C, XM_017005077.1:c.866T>C, NP_115584.1:p.Val289Ala, NP_060623.2:p.Val289Ala, NP_444262.1:p.Val289Ala, XP_016860565.1:p.Val289Ala, XP_016860564.1:p.Val289Ala, XP_016860566.1:p.Val289Ala

Select item 14835830299.

rs1483583029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69070689 (GRCh38)
2:69297821 (GRCh37)
Canonical SPDI:: NC_000002.12:69070688:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.69070689G>A, NC_000002.11:g.69297821G>A, NG_012649.1:g.62546G>A, NM_032208.3:c.339G>A, NM_032208.2:c.339G>A, NM_018153.3:c.339G>A, NM_053034.2:c.339G>A, NM_001410840.1:c.339G>A, XM_017005076.3:c.339G>A, XM_017005076.2:c.339G>A, XM_017005076.1:c.339G>A, XM_017005075.3:c.339G>A, XM_017005077.3:c.339G>A, XM_017005077.2:c.339G>A, XM_017005077.1:c.339G>A

Select item 148222750010.

rs1482227500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69013453 (GRCh38)
2:69240585 (GRCh37)
Canonical SPDI:: NC_000002.12:69013452:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.69013453G>A, NC_000002.11:g.69240585G>A, NG_012649.1:g.5310G>A, NM_032208.3:c.-47G>A, NM_032208.2:c.-47G>A, NM_018153.3:c.-47G>A, NM_053034.2:c.-47G>A, NM_001410840.1:c.-47G>A, XM_017005076.3:c.-47G>A, XM_017005076.2:c.-47G>A, XM_017005076.1:c.-47G>A, XM_017005075.3:c.-47G>A, XM_017005077.3:c.-47G>A, XM_017005077.2:c.-47G>A, XM_017005077.1:c.-47G>A

Select item 148136548711.

rs1481365487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69145932 (GRCh38)
2:69373064 (GRCh37)
Canonical SPDI:: NC_000002.12:69145931:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.69145932G>A, NC_000002.11:g.69373064G>A, NG_012649.1:g.137789G>A, NM_018153.3:c.*556G>A

Select item 148028129512.

rs1480281295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69013362 (GRCh38)
2:69240494 (GRCh37)
Canonical SPDI:: NC_000002.12:69013361:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.69013362C>T, NC_000002.11:g.69240494C>T, NG_012649.1:g.5219C>T, NM_032208.3:c.-138C>T, NM_032208.2:c.-138C>T, NM_018153.3:c.-138C>T, NM_053034.2:c.-138C>T, NM_001410840.1:c.-138C>T, XM_017005076.3:c.-138C>T, XM_017005076.2:c.-138C>T, XM_017005076.1:c.-138C>T, XM_017005075.3:c.-138C>T, XM_017005077.3:c.-138C>T, XM_017005077.2:c.-138C>T, XM_017005077.1:c.-138C>T

Select item 148002725413.

rs1480027254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69073097 (GRCh38)
2:69300229 (GRCh37)
Canonical SPDI:: NC_000002.12:69073096:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.69073097G>A, NC_000002.11:g.69300229G>A, NG_012649.1:g.64954G>A, NM_032208.3:c.488G>A, NM_032208.2:c.488G>A, NM_018153.3:c.488G>A, NM_053034.2:c.488G>A, NM_001410840.1:c.488G>A, XM_017005076.3:c.488G>A, XM_017005076.2:c.488G>A, XM_017005076.1:c.488G>A, XM_017005075.3:c.488G>A, XM_017005077.3:c.488G>A, XM_017005077.2:c.488G>A, XM_017005077.1:c.488G>A, NP_115584.1:p.Arg163Lys, NP_060623.2:p.Arg163Lys, NP_444262.1:p.Arg163Lys, XP_016860565.1:p.Arg163Lys, XP_016860564.1:p.Arg163Lys, XP_016860566.1:p.Arg163Lys

Select item 147946656014.

rs1479466560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69013413 (GRCh38)
2:69240545 (GRCh37)
Canonical SPDI:: NC_000002.12:69013412:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.69013413G>A, NC_000002.11:g.69240545G>A, NG_012649.1:g.5270G>A, NM_032208.3:c.-87G>A, NM_032208.2:c.-87G>A, NM_018153.3:c.-87G>A, NM_053034.2:c.-87G>A, NM_001410840.1:c.-87G>A, XM_017005076.3:c.-87G>A, XM_017005076.2:c.-87G>A, XM_017005076.1:c.-87G>A, XM_017005075.3:c.-87G>A, XM_017005077.3:c.-87G>A, XM_017005077.2:c.-87G>A, XM_017005077.1:c.-87G>A

Select item 147408060915.

rs1474080609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:69013186 (GRCh38)
2:69240318 (GRCh37)
Canonical SPDI:: NC_000002.12:69013185:T:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.69013186T>A, NC_000002.11:g.69240318T>A, NG_012649.1:g.5043T>A, NM_032208.3:c.-314T>A, NM_032208.2:c.-314T>A, NM_018153.3:c.-314T>A, NM_053034.2:c.-314T>A, NM_001410840.1:c.-314T>A, XM_017005076.3:c.-314T>A, XM_017005075.3:c.-314T>A, XM_017005077.3:c.-314T>A

Select item 147224630116.

rs1472246301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69146056 (GRCh38)
2:69373188 (GRCh37)
Canonical SPDI:: NC_000002.12:69146055:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.69146056G>A, NC_000002.11:g.69373188G>A, NG_012649.1:g.137913G>A, NM_018153.3:c.*680G>A

Select item 147189330917.

rs1471893309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:69013245 (GRCh38)
2:69240377 (GRCh37)
Canonical SPDI:: NC_000002.12:69013244:G:A
Gene:: ANTXR1 (Varview)
Functional Consequence:: 5_prime_UTR_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_000002.12:g.69013245G>A, NC_000002.11:g.69240377G>A, NG_012649.1:g.5102G>A, NM_032208.3:c.-255G>A, NM_032208.2:c.-255G>A, NM_018153.3:c.-255G>A, NM_053034.2:c.-255G>A, NM_001410840.1:c.-255G>A, XM_017005076.3:c.-255G>A, XM_017005075.3:c.-255G>A, XM_017005077.3:c.-255G>A

Select item 147042752518.

rs1470427525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69145816 (GRCh38)
2:69372948 (GRCh37)
Canonical SPDI:: NC_000002.12:69145815:C:T
Gene:: ANTXR1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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)
HGVS:: NC_000002.12:g.69145816C>T, NC_000002.11:g.69372948C>T, NG_012649.1:g.137673C>T, NM_018153.3:c.*440C>T

Select item 147005100919.

rs1470051009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:69013474 (GRCh38)
2:69240606 (GRCh37)
Canonical SPDI:: NC_000002.12:69013473:A:C
Gene:: ANTXR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.69013474A>C, NC_000002.11:g.69240606A>C, NG_012649.1:g.5331A>C, NM_032208.3:c.-26A>C, NM_032208.2:c.-26A>C, NM_018153.3:c.-26A>C, NM_053034.2:c.-26A>C, NM_001410840.1:c.-26A>C, XM_017005076.3:c.-26A>C, XM_017005076.2:c.-26A>C, XM_017005076.1:c.-26A>C, XM_017005075.3:c.-26A>C, XM_017005077.3:c.-26A>C, XM_017005077.2:c.-26A>C, XM_017005077.1:c.-26A>C

Select item 146951799820.

rs1469517998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:69145373 (GRCh38)
2:69372505 (GRCh37)
Canonical SPDI:: NC_000002.12:69145372:A:G
Gene:: ANTXR1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.69145373A>G, NC_000002.11:g.69372505A>G, NG_012649.1:g.137230A>G, NM_018153.3:c.999A>G

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