SNP Links for Nucleotide (Select 21361615) - SNP - NCBI

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Links from Nucleotide

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Select item 14908804901.

rs1490880490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:33773087 (GRCh38)
19:34263992 (GRCh37)
Canonical SPDI:: NC_000019.10:33773086:C:G,NC_000019.10:33773086:C:T
Gene:: CHST8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.33773087C>G, NC_000019.10:g.33773087C>T, NC_000019.9:g.34263992C>G, NC_000019.9:g.34263992C>T, NG_029857.2:g.156136C>G, NG_029857.2:g.156136C>T, NG_029857.1:g.156132C>G, NG_029857.1:g.156132C>T, NM_022467.3:c.*24C>G, NM_022467.3:c.*24C>T, NM_001127895.2:c.*24C>G, NM_001127895.2:c.*24C>T, NM_001127895.1:c.*24C>G, NM_001127895.1:c.*24C>T, NM_001127896.2:c.*24C>G, NM_001127896.2:c.*24C>T, NM_001127896.1:c.*24C>G, NM_001127896.1:c.*24C>T, XM_011527224.1:c.*24C>G, XM_011527224.1:c.*24C>T, XM_011527222.1:c.*24C>G, XM_011527222.1:c.*24C>T, XM_017027143.1:c.*24C>G, XM_017027143.1:c.*24C>T

Select item 14907611662.

rs1490761166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:33772119 (GRCh38)
19:34263024 (GRCh37)
Canonical SPDI:: NC_000019.10:33772118:C:G,NC_000019.10:33772118:C:T
Gene:: CHST8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.33772119C>G, NC_000019.10:g.33772119C>T, NC_000019.9:g.34263024C>G, NC_000019.9:g.34263024C>T, NG_029857.2:g.155168C>G, NG_029857.2:g.155168C>T, NG_029857.1:g.155164C>G, NG_029857.1:g.155164C>T, NM_022467.3:c.331C>G, NM_022467.3:c.331C>T, NM_001127895.2:c.331C>G, NM_001127895.2:c.331C>T, NM_001127895.1:c.331C>G, NM_001127895.1:c.331C>T, NM_001127896.2:c.331C>G, NM_001127896.2:c.331C>T, NM_001127896.1:c.331C>G, NM_001127896.1:c.331C>T, XM_011527224.1:c.331C>G, XM_011527224.1:c.331C>T, XM_011527222.1:c.331C>G, XM_011527222.1:c.331C>T, XM_017027143.1:c.331C>G, XM_017027143.1:c.331C>T, NP_071912.2:p.Arg111Gly, NP_071912.2:p.Arg111Cys, NP_001121367.1:p.Arg111Gly, NP_001121367.1:p.Arg111Cys, NP_001121368.1:p.Arg111Gly, NP_001121368.1:p.Arg111Cys, XP_011525526.1:p.Arg111Gly, XP_011525526.1:p.Arg111Cys, XP_011525524.1:p.Arg111Gly, XP_011525524.1:p.Arg111Cys, XP_016882632.1:p.Arg111Gly, XP_016882632.1:p.Arg111Cys

Select item 14858840783.

rs1485884078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:33772112 (GRCh38)
19:34263017 (GRCh37)
Canonical SPDI:: NC_000019.10:33772111:C:G
Gene:: CHST8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.33772112C>G, NC_000019.9:g.34263017C>G, NG_029857.2:g.155161C>G, NG_029857.1:g.155157C>G, NM_022467.3:c.324C>G, NM_001127895.2:c.324C>G, NM_001127895.1:c.324C>G, NM_001127896.2:c.324C>G, NM_001127896.1:c.324C>G, XM_011527224.1:c.324C>G, XM_011527222.1:c.324C>G, XM_017027143.1:c.324C>G

Select item 14857041404.

rs1485704140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:33772172 (GRCh38)
19:34263077 (GRCh37)
Canonical SPDI:: NC_000019.10:33772171:C:G
Gene:: CHST8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000019.10:g.33772172C>G, NC_000019.9:g.34263077C>G, NG_029857.2:g.155221C>G, NG_029857.1:g.155217C>G, NM_022467.3:c.384C>G, NM_001127895.2:c.384C>G, NM_001127895.1:c.384C>G, NM_001127896.2:c.384C>G, NM_001127896.1:c.384C>G, XM_011527224.1:c.384C>G, XM_011527222.1:c.384C>G, XM_017027143.1:c.384C>G, NP_071912.2:p.Asn128Lys, NP_001121367.1:p.Asn128Lys, NP_001121368.1:p.Asn128Lys, XP_011525526.1:p.Asn128Lys, XP_011525524.1:p.Asn128Lys, XP_016882632.1:p.Asn128Lys

Select item 14837229205.

rs1483722920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:33773306 (GRCh38)
19:34264211 (GRCh37)
Canonical SPDI:: NC_000019.10:33773305:C:A
Gene:: CHST8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.33773306C>A, NC_000019.9:g.34264211C>A, NG_029857.2:g.156355C>A, NG_029857.1:g.156351C>A, NM_022467.3:c.*243C>A, NM_001127895.2:c.*243C>A, NM_001127895.1:c.*243C>A, NM_001127896.2:c.*243C>A, NM_001127896.1:c.*243C>A, XM_011527224.1:c.*243C>A, XM_011527222.1:c.*243C>A, XM_017027143.1:c.*243C>A

Select item 14833778876.

rs1483377887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33772111 (GRCh38)
19:34263016 (GRCh37)
Canonical SPDI:: NC_000019.10:33772110:G:A
Gene:: CHST8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33772111G>A, NC_000019.9:g.34263016G>A, NG_029857.2:g.155160G>A, NG_029857.1:g.155156G>A, NM_022467.3:c.323G>A, NM_001127895.2:c.323G>A, NM_001127895.1:c.323G>A, NM_001127896.2:c.323G>A, NM_001127896.1:c.323G>A, XM_011527224.1:c.323G>A, XM_011527222.1:c.323G>A, XM_017027143.1:c.323G>A, NP_071912.2:p.Arg108His, NP_001121367.1:p.Arg108His, NP_001121368.1:p.Arg108His, XP_011525526.1:p.Arg108His, XP_011525524.1:p.Arg108His, XP_016882632.1:p.Arg108His

Select item 14802277037.

rs1480227703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:33684722 (GRCh38)
19:34175628 (GRCh37)
Canonical SPDI:: NC_000019.10:33684721:C:A,NC_000019.10:33684721:C:T
Gene:: CHST8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33684722C>A, NC_000019.10:g.33684722C>T, NC_000019.9:g.34175628C>A, NC_000019.9:g.34175628C>T, NG_029857.2:g.67771C>A, NG_029857.2:g.67771C>T, NG_029857.1:g.67768C>A, NG_029857.1:g.67768C>T, NM_022467.3:c.-564C>A, NM_022467.3:c.-564C>T

Select item 14799407488.

rs1479940748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33772281 (GRCh38)
19:34263186 (GRCh37)
Canonical SPDI:: NC_000019.10:33772280:G:A
Gene:: CHST8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.33772281G>A, NC_000019.9:g.34263186G>A, NG_029857.2:g.155330G>A, NG_029857.1:g.155326G>A, NM_022467.3:c.493G>A, NM_001127895.2:c.493G>A, NM_001127895.1:c.493G>A, NM_001127896.2:c.493G>A, NM_001127896.1:c.493G>A, XM_011527224.1:c.493G>A, XM_011527222.1:c.493G>A, XM_017027143.1:c.493G>A, NP_071912.2:p.Ala165Thr, NP_001121367.1:p.Ala165Thr, NP_001121368.1:p.Ala165Thr, XP_011525526.1:p.Ala165Thr, XP_011525524.1:p.Ala165Thr, XP_016882632.1:p.Ala165Thr

Select item 14782847299.

rs1478284729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33685028 (GRCh38)
19:34175934 (GRCh37)
Canonical SPDI:: NC_000019.10:33685027:C:T
Gene:: CHST8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.33685028C>T, NC_000019.9:g.34175934C>T, NG_029857.2:g.68077C>T, NG_029857.1:g.68074C>T, NM_022467.3:c.-258C>T

Select item 147680035910.

rs1476800359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:33773320 (GRCh38)
19:34264225 (GRCh37)
Canonical SPDI:: NC_000019.10:33773319:G:A
Gene:: CHST8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000354/6 (TOMMO)
HGVS:: NC_000019.10:g.33773320G>A, NC_000019.9:g.34264225G>A, NG_029857.2:g.156369G>A, NG_029857.1:g.156365G>A, NM_022467.3:c.*257G>A, NM_001127895.2:c.*257G>A, NM_001127895.1:c.*257G>A, NM_001127896.2:c.*257G>A, NM_001127896.1:c.*257G>A, XM_011527224.1:c.*257G>A, XM_011527222.1:c.*257G>A, XM_017027143.1:c.*257G>A

Select item 147636269211.

rs1476362692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:33684971 (GRCh38)
19:34175877 (GRCh37)
Canonical SPDI:: NC_000019.10:33684970:G:C
Gene:: CHST8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_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_000019.10:g.33684971G>C, NC_000019.9:g.34175877G>C, NG_029857.2:g.68020G>C, NG_029857.1:g.68017G>C, NM_022467.3:c.-315G>C

Select item 147412624012.

rs1474126240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33684883 (GRCh38)
19:34175789 (GRCh37)
Canonical SPDI:: NC_000019.10:33684882:C:T
Gene:: CHST8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.33684883C>T, NC_000019.9:g.34175789C>T, NG_029857.2:g.67932C>T, NG_029857.1:g.67929C>T, NM_022467.3:c.-403C>T

Select item 147378246013.

rs1473782460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:33773387 (GRCh38)
19:34264292 (GRCh37)
Canonical SPDI:: NC_000019.10:33773386:G:A,NC_000019.10:33773386:G:C
Gene:: CHST8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.33773387G>A, NC_000019.10:g.33773387G>C, NC_000019.9:g.34264292G>A, NC_000019.9:g.34264292G>C, NG_029857.2:g.156436G>A, NG_029857.2:g.156436G>C, NG_029857.1:g.156432G>A, NG_029857.1:g.156432G>C, NM_022467.3:c.*324G>A, NM_022467.3:c.*324G>C, NM_001127895.2:c.*324G>A, NM_001127895.2:c.*324G>C, NM_001127895.1:c.*324G>A, NM_001127895.1:c.*324G>C, NM_001127896.2:c.*324G>A, NM_001127896.2:c.*324G>C, NM_001127896.1:c.*324G>A, NM_001127896.1:c.*324G>C, XM_011527224.1:c.*324G>A, XM_011527224.1:c.*324G>C, XM_011527222.1:c.*324G>A, XM_011527222.1:c.*324G>C, XM_017027143.1:c.*324G>A, XM_017027143.1:c.*324G>C

Select item 147370305914.

rs1473703059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:33772551 (GRCh38)
19:34263456 (GRCh37)
Canonical SPDI:: NC_000019.10:33772550:C:G
Gene:: CHST8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.33772551C>G, NC_000019.9:g.34263456C>G, NG_029857.2:g.155600C>G, NG_029857.1:g.155596C>G, NM_022467.3:c.763C>G, NM_001127895.2:c.763C>G, NM_001127895.1:c.763C>G, NM_001127896.2:c.763C>G, NM_001127896.1:c.763C>G, XM_011527224.1:c.763C>G, XM_011527222.1:c.763C>G, XM_017027143.1:c.763C>G, NP_071912.2:p.Leu255Val, NP_001121367.1:p.Leu255Val, NP_001121368.1:p.Leu255Val, XP_011525526.1:p.Leu255Val, XP_011525524.1:p.Leu255Val, XP_016882632.1:p.Leu255Val

Select item 147327129015.

rs1473271290 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:33773454 (GRCh38)
19:34264359 (GRCh37)
Canonical SPDI:: NC_000019.10:33773453:A:
Gene:: CHST8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.33773454del, NC_000019.9:g.34264359del, NG_029857.2:g.156503del, NG_029857.1:g.156499del, NM_022467.3:c.*391del, NM_001127895.2:c.*391del, NM_001127895.1:c.*391del, NM_001127896.2:c.*391del, NM_001127896.1:c.*391del, XM_011527224.1:c.*391del, XM_011527222.1:c.*391del, XM_017027143.1:c.*391del

Select item 147008446916.

rs1470084469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:33689231 (GRCh38)
19:34180137 (GRCh37)
Canonical SPDI:: NC_000019.10:33689230:A:C
Gene:: CHST8 (Varview)
Functional Consequence:: 5_prime_UTR_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_000019.10:g.33689231A>C, NC_000019.9:g.34180137A>C, NG_029857.2:g.72280A>C, NG_029857.1:g.72277A>C, NM_022467.3:c.-31A>C, NM_001127895.2:c.-31A>C, NM_001127895.1:c.-31A>C, NM_001127896.2:c.-31A>C, NM_001127896.1:c.-31A>C, XM_011527224.1:c.-31A>C, XM_011527222.1:c.-31A>C, XM_017027143.1:c.-31A>C

Select item 146894126217.

rs1468941262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:33772234 (GRCh38)
19:34263139 (GRCh37)
Canonical SPDI:: NC_000019.10:33772233:T:C
Gene:: CHST8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0./0 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.33772234T>C, NC_000019.9:g.34263139T>C, NG_029857.2:g.155283T>C, NG_029857.1:g.155279T>C, NM_022467.3:c.446T>C, NM_001127895.2:c.446T>C, NM_001127895.1:c.446T>C, NM_001127896.2:c.446T>C, NM_001127896.1:c.446T>C, XM_011527224.1:c.446T>C, XM_011527222.1:c.446T>C, XM_017027143.1:c.446T>C, NP_071912.2:p.Leu149Pro, NP_001121367.1:p.Leu149Pro, NP_001121368.1:p.Leu149Pro, XP_011525526.1:p.Leu149Pro, XP_011525524.1:p.Leu149Pro, XP_016882632.1:p.Leu149Pro

Select item 146751749718.

rs1467517497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:33771434 (GRCh38)
19:34262339 (GRCh37)
Canonical SPDI:: NC_000019.10:33771433:C:T
Gene:: CHST8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.33771434C>T, NC_000019.9:g.34262339C>T, NG_029857.2:g.154483C>T, NG_029857.1:g.154479C>T, NM_022467.3:c.152C>T, NM_001127895.2:c.152C>T, NM_001127895.1:c.152C>T, NM_001127896.2:c.152C>T, NM_001127896.1:c.152C>T, XM_011527224.1:c.152C>T, XM_011527222.1:c.152C>T, XM_017027143.1:c.152C>T, NP_071912.2:p.Pro51Leu, NP_001121367.1:p.Pro51Leu, NP_001121368.1:p.Pro51Leu, XP_011525526.1:p.Pro51Leu, XP_011525524.1:p.Pro51Leu, XP_016882632.1:p.Pro51Leu

Select item 146627652419.

rs1466276524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:33773432 (GRCh38)
19:34264337 (GRCh37)
Canonical SPDI:: NC_000019.10:33773431:G:A,NC_000019.10:33773431:G:T
Gene:: CHST8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.33773432G>A, NC_000019.10:g.33773432G>T, NC_000019.9:g.34264337G>A, NC_000019.9:g.34264337G>T, NG_029857.2:g.156481G>A, NG_029857.2:g.156481G>T, NG_029857.1:g.156477G>A, NG_029857.1:g.156477G>T, NM_022467.3:c.*369G>A, NM_022467.3:c.*369G>T, NM_001127895.2:c.*369G>A, NM_001127895.2:c.*369G>T, NM_001127895.1:c.*369G>A, NM_001127895.1:c.*369G>T, NM_001127896.2:c.*369G>A, NM_001127896.2:c.*369G>T, NM_001127896.1:c.*369G>A, NM_001127896.1:c.*369G>T, XM_011527224.1:c.*369G>A, XM_011527224.1:c.*369G>T, XM_011527222.1:c.*369G>A, XM_011527222.1:c.*369G>T, XM_017027143.1:c.*369G>A, XM_017027143.1:c.*369G>T

Select item 146580390820.

rs1465803908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:33684575 (GRCh38)
19:34175481 (GRCh37)
Canonical SPDI:: NC_000019.10:33684574:C:A,NC_000019.10:33684574:C:T
Gene:: CHST8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.33684575C>A, NC_000019.10:g.33684575C>T, NC_000019.9:g.34175481C>A, NC_000019.9:g.34175481C>T, NG_029857.2:g.67624C>A, NG_029857.2:g.67624C>T, NG_029857.1:g.67621C>A, NG_029857.1:g.67621C>T, NM_022467.3:c.-711C>A, NM_022467.3:c.-711C>T

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