SNP Links for Nucleotide (Select 163965407) - SNP

Links from Nucleotide

Items: 1 to 20 of 2386

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Select item 14915583571.

rs1491558357 has merged into rs35328734 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:22635739 (GRCh38)
1:22962232 (GRCh37)
Canonical SPDI:: NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:22635729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C1QA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.036585/141 (ALSPAC)
-=0.040453/150 (TWINSUK)
T=0.121605/609 (1000Genomes)
HGVS:: NC_000001.11:g.22635739_22635749del, NC_000001.11:g.22635740_22635749del, NC_000001.11:g.22635743_22635749del, NC_000001.11:g.22635745_22635749del, NC_000001.11:g.22635746_22635749del, NC_000001.11:g.22635747_22635749del, NC_000001.11:g.22635748_22635749del, NC_000001.11:g.22635749del, NC_000001.11:g.22635749dup, NC_000001.11:g.22635748_22635749dup, NC_000001.11:g.22635747_22635749dup, NC_000001.11:g.22635746_22635749dup, NC_000001.11:g.22635745_22635749dup, NC_000001.10:g.22962232_22962242del, NC_000001.10:g.22962233_22962242del, NC_000001.10:g.22962236_22962242del, NC_000001.10:g.22962238_22962242del, NC_000001.10:g.22962239_22962242del, NC_000001.10:g.22962240_22962242del, NC_000001.10:g.22962241_22962242del, NC_000001.10:g.22962242del, NC_000001.10:g.22962242dup, NC_000001.10:g.22962241_22962242dup, NC_000001.10:g.22962240_22962242dup, NC_000001.10:g.22962239_22962242dup, NC_000001.10:g.22962238_22962242dup, NG_007282.1:g.4115_4125del, NG_007282.1:g.4116_4125del, NG_007282.1:g.4119_4125del, NG_007282.1:g.4121_4125del, NG_007282.1:g.4122_4125del, NG_007282.1:g.4123_4125del, NG_007282.1:g.4124_4125del, NG_007282.1:g.4125del, NG_007282.1:g.4125dup, NG_007282.1:g.4124_4125dup, NG_007282.1:g.4123_4125dup, NG_007282.1:g.4122_4125dup, NG_007282.1:g.4121_4125dup

Select item 14905853142.

rs1490585314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:22632014 (GRCh38)
1:22958507 (GRCh37)
Canonical SPDI:: NC_000001.11:22632013:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.22632014G>A, NC_000001.10:g.22958507G>A, NG_007282.1:g.390G>A

Select item 14904935373.

rs1490493537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:22638108 (GRCh38)
1:22964601 (GRCh37)
Canonical SPDI:: NC_000001.11:22638107:C:G,NC_000001.11:22638107:C:T
Gene:: C1QA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.22638108C>G, NC_000001.11:g.22638108C>T, NC_000001.10:g.22964601C>G, NC_000001.10:g.22964601C>T, NG_007282.1:g.6484C>G, NG_007282.1:g.6484C>T

Select item 14904886124.

rs1490488612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:22638230 (GRCh38)
1:22964723 (GRCh37)
Canonical SPDI:: NC_000001.11:22638229:A:T
Gene:: C1QA (Varview)
Functional Consequence:: intron_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_000001.11:g.22638230A>T, NC_000001.10:g.22964723A>T, NG_007282.1:g.6606A>T

Select item 14899984835.

rs1489998483 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGGCAGG [Show Flanks]
Chromosome:: 1:22637716 (GRCh38)
1:22964210 (GRCh37)
Canonical SPDI:: NC_000001.11:22637716:GGGAGGCAGG:GGGAGGCAGGGAGGCAGG
Gene:: C1QA (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGAGGCAGGGAGGCAGG=0./0 (ALFA)
GGGAGGCA=0.000004/1 (TOPMED)
GGGAGGCA=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.22637719_22637726dup, NC_000001.10:g.22964212_22964219dup, NG_007282.1:g.6095_6102dup, NM_015991.4:c.103_110dup, NM_015991.3:c.103_110dup, NM_015991.2:c.103_110dup, NM_001347466.2:c.103_110dup, NM_001347466.1:c.103_110dup, NM_001347465.2:c.103_110dup, NM_001347465.1:c.103_110dup, NP_057075.1:p.Pro39fs, NP_001334395.1:p.Pro39fs, NP_001334394.1:p.Pro39fs

Select item 14899767516.

rs1489976751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:22638772 (GRCh38)
1:22965265 (GRCh37)
Canonical SPDI:: NC_000001.11:22638771:C:G,NC_000001.11:22638771:C:T
Gene:: C1QA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.22638772C>G, NC_000001.11:g.22638772C>T, NC_000001.10:g.22965265C>G, NC_000001.10:g.22965265C>T, NG_007565.1:g.148C>G, NG_007565.1:g.148C>T, NG_007282.1:g.7148C>G, NG_007282.1:g.7148C>T

Select item 14897942097.

rs1489794209 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:22637971 (GRCh38)
1:22964465 (GRCh37)
Canonical SPDI:: NC_000001.11:22637971:A:AA
Gene:: C1QA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.22637972dup, NC_000001.10:g.22964465dup, NG_007282.1:g.6348dup

Select item 14897528088.

rs1489752808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:22641656 (GRCh38)
1:22968149 (GRCh37)
Canonical SPDI:: NC_000001.11:22641655:A:C
Gene:: C1QC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000108/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000036/5 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.22641656A>C, NC_000001.10:g.22968149A>C, NG_007565.1:g.3032A>C, NG_007282.1:g.10032A>C

Select item 14891026129.

rs1489102612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:22639633 (GRCh38)
1:22966126 (GRCh37)
Canonical SPDI:: NC_000001.11:22639632:G:A
Gene:: C1QA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.22639633G>A, NC_000001.10:g.22966126G>A, NG_007565.1:g.1009G>A, NG_007282.1:g.8009G>A, NM_015991.4:c.*226G>A, NM_015991.3:c.*226G>A, NM_015991.2:c.*226G>A, NM_001347466.2:c.*226G>A, NM_001347466.1:c.*226G>A, NM_001347465.2:c.*226G>A, NM_001347465.1:c.*226G>A

Select item 148902895410.

rs1489028954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:22636799 (GRCh38)
1:22963292 (GRCh37)
Canonical SPDI:: NC_000001.11:22636798:A:G
Gene:: C1QA (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.22636799A>G, NC_000001.10:g.22963292A>G, NG_007282.1:g.5175A>G, NM_001347466.2:c.-69A>G, NM_001347466.1:c.-69A>G

Select item 148870146311.

rs1488701463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:22638014 (GRCh38)
1:22964507 (GRCh37)
Canonical SPDI:: NC_000001.11:22638013:T:G
Gene:: C1QA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.22638014T>G, NC_000001.10:g.22964507T>G, NG_007282.1:g.6390T>G

Select item 148828643112.

rs1488286431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:22633633 (GRCh38)
1:22960126 (GRCh37)
Canonical SPDI:: NC_000001.11:22633632:T:A,NC_000001.11:22633632:T:G
Gene:: MIR6127 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.22633633T>A, NC_000001.11:g.22633633T>G, NC_000001.10:g.22960126T>A, NC_000001.10:g.22960126T>G, NG_007282.1:g.2009T>A, NG_007282.1:g.2009T>G

Select item 148763894713.

rs1487638947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:22640772 (GRCh38)
1:22967265 (GRCh37)
Canonical SPDI:: NC_000001.11:22640771:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.22640772C>A, NC_000001.10:g.22967265C>A, NG_007565.1:g.2148C>A, NG_007282.1:g.9148C>A

Select item 148731458514.

rs1487314585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:22635629 (GRCh38)
1:22962122 (GRCh37)
Canonical SPDI:: NC_000001.11:22635628:G:A
Gene:: C1QA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.22635629G>A, NC_000001.10:g.22962122G>A, NG_007282.1:g.4005G>A

Select item 148724190715.

rs1487241907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:22636639 (GRCh38)
1:22963132 (GRCh37)
Canonical SPDI:: NC_000001.11:22636638:G:A
Gene:: C1QA (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.22636639G>A, NC_000001.10:g.22963132G>A, NG_007282.1:g.5015G>A, NM_015991.4:c.-71G>A, NM_015991.3:c.-71G>A, NM_015991.2:c.-71G>A, NM_001347466.2:c.-229G>A, NM_001347465.2:c.-91G>A, NM_001347465.1:c.-91G>A

Select item 148599253516.

rs1485992535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:22632883 (GRCh38)
1:22959376 (GRCh37)
Canonical SPDI:: NC_000001.11:22632882:G:A
Gene:: MIR6127 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.005756/94 (ALFA)
A=0.002282/238 (GnomAD)
A=0.010406/174 (TOMMO)
A=0.020456/131 (1000Genomes)
A=0.070645/206 (KOREAN)
HGVS:: NC_000001.11:g.22632883G>A, NC_000001.10:g.22959376G>A, NG_007282.1:g.1259G>A

Select item 148575545717.

rs1485755457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:22633416 (GRCh38)
1:22959909 (GRCh37)
Canonical SPDI:: NC_000001.11:22633415:G:A,NC_000001.11:22633415:G:C
Gene:: MIR6127 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.22633416G>A, NC_000001.11:g.22633416G>C, NC_000001.10:g.22959909G>A, NC_000001.10:g.22959909G>C, NG_007282.1:g.1792G>A, NG_007282.1:g.1792G>C

Select item 148553140618.

rs1485531406 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:22640884 (GRCh38)
1:22967377 (GRCh37)
Canonical SPDI:: NC_000001.11:22640883:TT:T
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.22640885del, NC_000001.10:g.22967378del, NG_007565.1:g.2261del, NG_007282.1:g.9261del

Select item 148501043719.

rs1485010437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:22632071 (GRCh38)
1:22958564 (GRCh37)
Canonical SPDI:: NC_000001.11:22632070:C:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.22632071C>A, NC_000001.10:g.22958564C>A, NG_007282.1:g.447C>A

Select item 148478627620.

rs1484786276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:22633501 (GRCh38)
1:22959994 (GRCh37)
Canonical SPDI:: NC_000001.11:22633500:C:G,NC_000001.11:22633500:C:T
Gene:: MIR6127 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.22633501C>G, NC_000001.11:g.22633501C>T, NC_000001.10:g.22959994C>G, NC_000001.10:g.22959994C>T, NG_007282.1:g.1877C>G, NG_007282.1:g.1877C>T

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