SNP Links for Nucleotide (Select 951233719) - SNP

Links from Nucleotide

Items: 1 to 20 of 53

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Select item 14695508271.

rs1469550827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:177457142 (GRCh38)
4:178378296 (GRCh37)
Canonical SPDI:: NC_000004.12:177457141:C:T
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.177457142C>T, NC_000004.11:g.178378296C>T, NG_045128.1:g.187G>A

Select item 14552508902.

rs1455250890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:177457231 (GRCh38)
4:178378385 (GRCh37)
Canonical SPDI:: NC_000004.12:177457230:A:C
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.177457231A>C, NC_000004.11:g.178378385A>C, NG_045128.1:g.98T>G

Select item 13984975983.

rs1398497598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:177457116 (GRCh38)
4:178378270 (GRCh37)
Canonical SPDI:: NC_000004.12:177457115:A:G
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_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_000004.12:g.177457116A>G, NC_000004.11:g.178378270A>G, NG_045128.1:g.213T>C

Select item 13517708154.

rs1351770815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:177457293 (GRCh38)
4:178378447 (GRCh37)
Canonical SPDI:: NC_000004.12:177457292:C:A
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_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_000004.12:g.177457293C>A, NC_000004.11:g.178378447C>A, NG_045128.1:g.36G>T

Select item 13483024715.

rs1348302471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:177457304 (GRCh38)
4:178378458 (GRCh37)
Canonical SPDI:: NC_000004.12:177457303:C:T
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.177457304C>T, NC_000004.11:g.178378458C>T, NG_045128.1:g.25G>A

Select item 13480734336.

rs1348073433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:177457068 (GRCh38)
4:178378222 (GRCh37)
Canonical SPDI:: NC_000004.12:177457067:C:T
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000107/15 (GnomAD)
T=0.000132/35 (TOPMED)
HGVS:: NC_000004.12:g.177457068C>T, NC_000004.11:g.178378222C>T, NG_045128.1:g.261G>A

Select item 13311382617.

rs1331138261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:177457119 (GRCh38)
4:178378273 (GRCh37)
Canonical SPDI:: NC_000004.12:177457118:A:C
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.177457119A>C, NC_000004.11:g.178378273A>C, NG_045128.1:g.210T>G

Select item 13185530148.

rs1318553014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:177457098 (GRCh38)
4:178378252 (GRCh37)
Canonical SPDI:: NC_000004.12:177457097:T:C
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.177457098T>C, NC_000004.11:g.178378252T>C, NG_045128.1:g.231A>G

Select item 13003437739.

rs1300343773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:177457281 (GRCh38)
4:178378435 (GRCh37)
Canonical SPDI:: NC_000004.12:177457280:C:G,NC_000004.12:177457280:C:T
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.177457281C>G, NC_000004.12:g.177457281C>T, NC_000004.11:g.178378435C>G, NC_000004.11:g.178378435C>T, NG_045128.1:g.48G>C, NG_045128.1:g.48G>A

Select item 128566871410.

rs1285668714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:177457300 (GRCh38)
4:178378454 (GRCh37)
Canonical SPDI:: NC_000004.12:177457299:C:A
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.177457300C>A, NC_000004.11:g.178378454C>A, NG_045128.1:g.29G>T

Select item 128448191811.

rs1284481918 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:177457091 (GRCh38)
4:178378245 (GRCh37)
Canonical SPDI:: NC_000004.12:177457088:AGAG:AG
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.177457089AG[1], NC_000004.11:g.178378243AG[1], NG_045128.1:g.237CT[1]

Select item 128010064312.

rs1280100643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:177457053 (GRCh38)
4:178378207 (GRCh37)
Canonical SPDI:: NC_000004.12:177457052:G:T
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.177457053G>T, NC_000004.11:g.178378207G>T, NG_045128.1:g.276C>A

Select item 125515382413.

rs1255153824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:177457117 (GRCh38)
4:178378271 (GRCh37)
Canonical SPDI:: NC_000004.12:177457116:A:T
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.177457117A>T, NC_000004.11:g.178378271A>T, NG_045128.1:g.212T>A

Select item 125306647714.

rs1253066477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:177457170 (GRCh38)
4:178378324 (GRCh37)
Canonical SPDI:: NC_000004.12:177457169:C:A
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_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_000004.12:g.177457170C>A, NC_000004.11:g.178378324C>A, NG_045128.1:g.159G>T

Select item 125255274415.

rs1252552744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:177457257 (GRCh38)
4:178378411 (GRCh37)
Canonical SPDI:: NC_000004.12:177457256:C:G,NC_000004.12:177457256:C:T
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.177457257C>G, NC_000004.12:g.177457257C>T, NC_000004.11:g.178378411C>G, NC_000004.11:g.178378411C>T, NG_045128.1:g.72G>C, NG_045128.1:g.72G>A

Select item 123648394116.

rs1236483941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:177457326 (GRCh38)
4:178378480 (GRCh37)
Canonical SPDI:: NC_000004.12:177457325:T:C
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.177457326T>C, NC_000004.11:g.178378480T>C, NG_045128.1:g.3A>G

Select item 123609061817.

rs1236090618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:177457147 (GRCh38)
4:178378301 (GRCh37)
Canonical SPDI:: NC_000004.12:177457146:C:A
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.177457147C>A, NC_000004.11:g.178378301C>A, NG_045128.1:g.182G>T

Select item 122747393518.

rs1227473935 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 120807301419.

rs1208073014 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:177457175 (GRCh38)
4:178378330 (GRCh37)
Canonical SPDI:: NC_000004.12:177457175:A:AA
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.177457176dup, NC_000004.11:g.178378330dup, NG_045128.1:g.153dup

Select item 120778411820.

rs1207784118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:177457113 (GRCh38)
4:178378267 (GRCh37)
Canonical SPDI:: NC_000004.12:177457112:A:G
Gene:: AGA-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.177457113A>G, NC_000004.11:g.178378267A>G, NG_045128.1:g.216T>C

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Links from Nucleotide

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