SNP Links for Nucleotide (Select 338827609) - SNP

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Links from Nucleotide

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Select item 14899520101.

rs1489952010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:77561952 (GRCh38)
17:75558034 (GRCh37)
Canonical SPDI:: NC_000017.11:77561951:G:A
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.77561952G>A, NC_000017.10:g.75558034G>A, XM_047437264.1:c.830C>T, NR_040050.1:n.1160G>A, XP_047293220.1:p.Ser277Leu

Select item 14878527382.

rs1487852738 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:77563428 (GRCh38)
17:75559510 (GRCh37)
Canonical SPDI:: NC_000017.11:77563423:TCTCTC:TCTC
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.77563424TC[2], NC_000017.10:g.75559506TC[2], XM_047437264.1:c.-648GA[2], NR_040050.1:n.2632TC[2]

Select item 14869825213.

rs1486982521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:77564236 (GRCh38)
17:75560318 (GRCh37)
Canonical SPDI:: NC_000017.11:77564235:G:C
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.77564236G>C, NC_000017.10:g.75560318G>C, XM_047437264.1:c.-1455C>G, NR_040050.1:n.3444G>C

Select item 14869492524.

rs1486949252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:77563099 (GRCh38)
17:75559181 (GRCh37)
Canonical SPDI:: NC_000017.11:77563098:G:A,NC_000017.11:77563098:G:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.77563099G>A, NC_000017.11:g.77563099G>T, NC_000017.10:g.75559181G>A, NC_000017.10:g.75559181G>T, XM_047437264.1:c.-318C>T, XM_047437264.1:c.-318C>A, NR_040050.1:n.2307G>A, NR_040050.1:n.2307G>T

Select item 14843679335.

rs1484367933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:77561813 (GRCh38)
17:75557895 (GRCh37)
Canonical SPDI:: NC_000017.11:77561812:A:G,NC_000017.11:77561812:A:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.77561813A>G, NC_000017.11:g.77561813A>T, NC_000017.10:g.75557895A>G, NC_000017.10:g.75557895A>T, XM_047437264.1:c.916T>C, XM_047437264.1:c.916T>A, NR_040050.1:n.1021A>G, NR_040050.1:n.1021A>T, XP_047293220.1:p.Trp306Arg, XP_047293220.1:p.Trp306Arg

Select item 14843308226.

rs1484330822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:77562567 (GRCh38)
17:75558649 (GRCh37)
Canonical SPDI:: NC_000017.11:77562566:C:G,NC_000017.11:77562566:C:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00012/2 (ALFA)
HGVS:: NC_000017.11:g.77562567C>G, NC_000017.11:g.77562567C>T, NC_000017.10:g.75558649C>G, NC_000017.10:g.75558649C>T, XM_047437264.1:c.215G>C, XM_047437264.1:c.215G>A, NR_040050.1:n.1775C>G, NR_040050.1:n.1775C>T, XP_047293220.1:p.Cys72Ser, XP_047293220.1:p.Cys72Tyr

Select item 14840554047.

rs1484055404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:77564492 (GRCh38)
17:75560574 (GRCh37)
Canonical SPDI:: NC_000017.11:77564491:A:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.77564492A>T, NC_000017.10:g.75560574A>T, XM_047437264.1:c.-1711T>A, NR_040050.1:n.3700A>T

Select item 14839414778.

rs1483941477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:77562895 (GRCh38)
17:75558977 (GRCh37)
Canonical SPDI:: NC_000017.11:77562894:C:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_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_000017.11:g.77562895C>T, NC_000017.10:g.75558977C>T, XM_047437264.1:c.-114G>A, NR_040050.1:n.2103C>T

Select item 14831949399.

rs1483194939 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:77563969 (GRCh38)
17:75560051 (GRCh37)
Canonical SPDI:: NC_000017.11:77563968:C:
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.77563969del, NC_000017.10:g.75560051del, XM_047437264.1:c.-1188del, NR_040050.1:n.3177del

Select item 148215531310.

rs1482155313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:77560969 (GRCh38)
17:75557051 (GRCh37)
Canonical SPDI:: NC_000017.11:77560968:C:G,NC_000017.11:77560968:C:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.77560969C>G, NC_000017.11:g.77560969C>T, NC_000017.10:g.75557051C>G, NC_000017.10:g.75557051C>T, NR_040050.1:n.177C>G, NR_040050.1:n.177C>T

Select item 148197595311.

rs1481975953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:77563865 (GRCh38)
17:75559947 (GRCh37)
Canonical SPDI:: NC_000017.11:77563864:C:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.77563865C>T, NC_000017.10:g.75559947C>T, XM_047437264.1:c.-1084G>A, NR_040050.1:n.3073C>T

Select item 148188382612.

rs1481883826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:77547090 (GRCh38)
17:75543172 (GRCh37)
Canonical SPDI:: NC_000017.11:77547089:A:G,NC_000017.11:77547089:A:T
Gene:: LOC100507351 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.77547090A>G, NC_000017.11:g.77547090A>T, NC_000017.10:g.75543172A>G, NC_000017.10:g.75543172A>T, NR_040050.1:n.150A>G, NR_040050.1:n.150A>T

Select item 148155131113.

rs1481551311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:77563955 (GRCh38)
17:75560037 (GRCh37)
Canonical SPDI:: NC_000017.11:77563954:G:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.77563955G>T, NC_000017.10:g.75560037G>T, XM_047437264.1:c.-1174C>A, NR_040050.1:n.3163G>T

Select item 148147812314.

rs1481478123 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 17:77561359 (GRCh38)
17:75557441 (GRCh37)
Canonical SPDI:: NC_000017.11:77561356:CTTCT:CT
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.00002/2 (GnomAD)
-=0.00055/1 (Korea1K)
HGVS:: NC_000017.11:g.77561359_77561361del, NC_000017.10:g.75557441_75557443del, XM_047437264.1:c.1028_1030del, NR_040050.1:n.567_569del, XP_047293220.1:p.Glu343del

Select item 148133231115.

rs1481332311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:77561546 (GRCh38)
17:75557628 (GRCh37)
Canonical SPDI:: NC_000017.11:77561545:C:A
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000044/6 (GnomAD)
HGVS:: NC_000017.11:g.77561546C>A, NC_000017.10:g.75557628C>A, NR_040050.1:n.754C>A

Select item 147980372816.

rs1479803728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:77561872 (GRCh38)
17:75557954 (GRCh37)
Canonical SPDI:: NC_000017.11:77561871:C:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00013/4 (GnomAD)
HGVS:: NC_000017.11:g.77561872C>T, NC_000017.10:g.75557954C>T, XM_047437264.1:c.910G>A, NR_040050.1:n.1080C>T, XP_047293220.1:p.Gly304Ser

Select item 147958995217.

rs1479589952 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:77565006 (GRCh38)
17:75561089 (GRCh37)
Canonical SPDI:: NC_000017.11:77565006:CCCC:CCCCC
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCCC=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.77565010dup, NC_000017.10:g.75561092dup, XM_047437264.1:c.-2226dup, NR_040050.1:n.4218dup

Select item 147955021018.

rs1479550210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:77562041 (GRCh38)
17:75558123 (GRCh37)
Canonical SPDI:: NC_000017.11:77562040:G:A,NC_000017.11:77562040:G:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.00042/5 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000017.11:g.77562041G>A, NC_000017.11:g.77562041G>T, NC_000017.10:g.75558123G>A, NC_000017.10:g.75558123G>T, XM_047437264.1:c.741C>T, XM_047437264.1:c.741C>A, NR_040050.1:n.1249G>A, NR_040050.1:n.1249G>T, XP_047293220.1:p.Asp247Glu

Select item 147920683419.

rs1479206834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:77562170 (GRCh38)
17:75558252 (GRCh37)
Canonical SPDI:: NC_000017.11:77562169:A:C
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00034/4 (ALFA)
A=0./0 (SGDP_PRJ)
HGVS:: NC_000017.11:g.77562170A>C, NC_000017.10:g.75558252A>C, XM_047437264.1:c.612T>G, NR_040050.1:n.1378A>C, XP_047293220.1:p.His204Gln

Select item 147905042420.

rs1479050424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:77561878 (GRCh38)
17:75557960 (GRCh37)
Canonical SPDI:: NC_000017.11:77561877:C:T
Gene:: LOC100507351 (Varview), LOC124904103 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00388/46 (ALFA)
T=0.0313/86 (KOREAN)
C=0.42857/6 (SGDP_PRJ)
HGVS:: NC_000017.11:g.77561878C>T, NC_000017.10:g.75557960C>T, XM_047437264.1:c.904G>A, NR_040050.1:n.1086C>T, XP_047293220.1:p.Val302Ile