SNP Links for Nucleotide (Select 1047225859) - SNP

Links from Nucleotide

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Select item 14915415851.

rs1491541585 has merged into rs35102693 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 17:81679736 (GRCh38)
17:79646766 (GRCh37)
Canonical SPDI:: NC_000017.11:81679723:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:81679723:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:81679723:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:81679723:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:81679723:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:81679723:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:81679723:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:81679723:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:81679723:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.01596/9 (NorthernSweden)
-=0.16347/630 (ALSPAC)
-=0.16936/628 (TWINSUK)
-=0.19109/957 (1000Genomes)
HGVS:: NC_000017.11:g.81679736_81679741del, NC_000017.11:g.81679737_81679741del, NC_000017.11:g.81679738_81679741del, NC_000017.11:g.81679739_81679741del, NC_000017.11:g.81679740_81679741del, NC_000017.11:g.81679741del, NC_000017.11:g.81679741dup, NC_000017.11:g.81679740_81679741dup, NC_000017.11:g.81679737_81679741dup, NC_000017.10:g.79646766_79646771del, NC_000017.10:g.79646767_79646771del, NC_000017.10:g.79646768_79646771del, NC_000017.10:g.79646769_79646771del, NC_000017.10:g.79646770_79646771del, NC_000017.10:g.79646771del, NC_000017.10:g.79646771dup, NC_000017.10:g.79646770_79646771dup, NC_000017.10:g.79646767_79646771dup, NG_051248.1:g.9196_9201del, NG_051248.1:g.9197_9201del, NG_051248.1:g.9198_9201del, NG_051248.1:g.9199_9201del, NG_051248.1:g.9200_9201del, NG_051248.1:g.9201del, NG_051248.1:g.9201dup, NG_051248.1:g.9200_9201dup, NG_051248.1:g.9197_9201dup

Select item 14909679302.

rs1490967930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:81681687 (GRCh38)
17:79648717 (GRCh37)
Canonical SPDI:: NC_000017.11:81681686:A:C
Gene:: ARL16 (Varview)
Functional Consequence:: non_coding_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_000017.11:g.81681687A>C, NC_000017.10:g.79648717A>C, NG_051248.1:g.7238T>G, NM_001040025.3:c.*21T>G, NM_001040025.2:c.*21T>G, NM_001040025.1:c.*21T>G, NM_001329608.2:c.*21T>G, NM_001329608.1:c.*21T>G, NR_138058.2:n.772T>G, NR_138058.1:n.899T>G, NM_001329609.2:c.*21T>G, NM_001329609.1:c.*21T>G, NR_138060.1:n.729T>G, NR_138059.1:n.430T>G

Select item 14909527213.

rs1490952721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81681735 (GRCh38)
17:79648765 (GRCh37)
Canonical SPDI:: NC_000017.11:81681734:G:A
Gene:: ARL16 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81681735G>A, NC_000017.10:g.79648765G>A, NG_051248.1:g.7190C>T, NM_001040025.3:c.495C>T, NM_001040025.2:c.567C>T, NM_001040025.1:c.567C>T, NM_001329608.2:c.354C>T, NM_001329608.1:c.354C>T, NR_138058.2:n.724C>T, NR_138058.1:n.851C>T, NM_001329609.2:c.309C>T, NM_001329609.1:c.309C>T, NR_138060.1:n.681C>T, NR_138059.1:n.382C>T

Select item 14909416194.

rs1490941619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81681351 (GRCh38)
17:79648381 (GRCh37)
Canonical SPDI:: NC_000017.11:81681350:A:G
Gene:: ARL16 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.81681351A>G, NC_000017.10:g.79648381A>G, NG_051248.1:g.7574T>C, NM_001040025.3:c.*357T>C, NM_001040025.2:c.*357T>C, NM_001040025.1:c.*357T>C, NM_001329608.2:c.*357T>C, NM_001329608.1:c.*357T>C, NR_138058.2:n.1108T>C, NR_138058.1:n.1235T>C, NM_001329609.2:c.*357T>C, NM_001329609.1:c.*357T>C, NR_138060.1:n.1065T>C, NR_138059.1:n.766T>C

Select item 14908809355.

rs1490880935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81682665 (GRCh38)
17:79649695 (GRCh37)
Canonical SPDI:: NC_000017.11:81682664:G:A
Gene:: HGS (Varview), ARL16 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.81682665G>A, NC_000017.10:g.79649695G>A, NG_051248.1:g.6260C>T, NM_001329608.2:c.-423C>T, NM_001329608.1:c.-423C>T, NR_138058.2:n.289C>T, NR_138058.1:n.416C>T, NR_138060.1:n.246C>T

Select item 14907651266.

rs1490765126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81686702 (GRCh38)
17:79653732 (GRCh37)
Canonical SPDI:: NC_000017.11:81686701:C:T
Gene:: HGS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.81686702C>T, NC_000017.10:g.79653732C>T, NG_051248.1:g.2223G>A

Select item 14907227347.

rs1490722734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:81683049 (GRCh38)
17:79650079 (GRCh37)
Canonical SPDI:: NC_000017.11:81683048:G:C
Gene:: HGS (Varview), ARL16 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81683049G>C, NC_000017.10:g.79650079G>C, NG_051248.1:g.5876C>G, NM_001040025.3:c.198C>G, NM_001040025.2:c.270C>G, NM_001040025.1:c.270C>G, NM_001329608.2:c.-470C>G, NM_001329608.1:c.-470C>G, NR_138058.2:n.242C>G, NR_138058.1:n.369C>G, NM_001329609.2:c.12C>G, NM_001329609.1:c.12C>G, NR_138060.1:n.199C>G, NP_001035114.2:p.Ile66Met, NP_001316538.1:p.Ile4Met

Select item 14905585748.

rs1490558574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81682138 (GRCh38)
17:79649168 (GRCh37)
Canonical SPDI:: NC_000017.11:81682137:G:A
Gene:: HGS (Varview), ARL16 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_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_000017.11:g.81682138G>A, NC_000017.10:g.79649168G>A, NG_051248.1:g.6787C>T, NM_001040025.3:c.246C>T, NM_001040025.2:c.318C>T, NM_001040025.1:c.318C>T, NM_001329608.2:c.105C>T, NM_001329608.1:c.105C>T, NR_138058.2:n.475C>T, NR_138058.1:n.602C>T, NM_001329609.2:c.60C>T, NM_001329609.1:c.60C>T, NR_138060.1:n.432C>T, NR_138059.1:n.133C>T

Select item 14904771379.

rs1490477137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81681190 (GRCh38)
17:79648220 (GRCh37)
Canonical SPDI:: NC_000017.11:81681189:G:A
Gene:: ARL16 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.81681190G>A, NC_000017.10:g.79648220G>A, NG_051248.1:g.7735C>T, NM_001040025.3:c.*518C>T, NM_001040025.2:c.*518C>T, NM_001329608.2:c.*518C>T, NM_001329608.1:c.*518C>T, NR_138058.2:n.1269C>T, NR_138058.1:n.1396C>T, NM_001329609.2:c.*518C>T, NM_001329609.1:c.*518C>T, NR_138060.1:n.1226C>T, NR_138059.1:n.927C>T

Select item 149045120210.

rs1490451202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81682435 (GRCh38)
17:79649465 (GRCh37)
Canonical SPDI:: NC_000017.11:81682434:G:A
Gene:: HGS (Varview), ARL16 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81682435G>A, NC_000017.10:g.79649465G>A, NG_051248.1:g.6490C>T, NM_001329608.2:c.-193C>T, NM_001329608.1:c.-193C>T

Select item 149029796411.

rs1490297964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81686458 (GRCh38)
17:79653488 (GRCh37)
Canonical SPDI:: NC_000017.11:81686457:A:G
Gene:: HGS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81686458A>G, NC_000017.10:g.79653488A>G, NG_051248.1:g.2467T>C

Select item 149026798112.

rs1490267981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:81684090 (GRCh38)
17:79651120 (GRCh37)
Canonical SPDI:: NC_000017.11:81684089:C:A,NC_000017.11:81684089:C:T
Gene:: HGS (Varview), ARL16 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/7 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81684090C>A, NC_000017.11:g.81684090C>T, NC_000017.10:g.79651120C>A, NC_000017.10:g.79651120C>T, NG_051248.1:g.4835G>T, NG_051248.1:g.4835G>A, NG_057354.1:g.492C>A, NG_057354.1:g.492C>T, NM_004712.5:c.24C>A, NM_004712.5:c.24C>T, NM_004712.4:c.24C>A, NM_004712.4:c.24C>T, NP_004703.1:p.Phe8Leu

Select item 148989933013.

rs1489899330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81681792 (GRCh38)
17:79648822 (GRCh37)
Canonical SPDI:: NC_000017.11:81681791:G:A
Gene:: ARL16 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81681792G>A, NC_000017.10:g.79648822G>A, NG_051248.1:g.7133C>T, NM_001040025.3:c.438C>T, NM_001040025.2:c.510C>T, NM_001040025.1:c.510C>T, NM_001329608.2:c.297C>T, NM_001329608.1:c.297C>T, NR_138058.2:n.667C>T, NR_138058.1:n.794C>T, NM_001329609.2:c.252C>T, NM_001329609.1:c.252C>T, NR_138060.1:n.624C>T, NR_138059.1:n.325C>T

Select item 148977298014.

rs1489772980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:81680722 (GRCh38)
17:79647752 (GRCh37)
Canonical SPDI:: NC_000017.11:81680721:T:G
Gene:: ARL16 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81680722T>G, NC_000017.10:g.79647752T>G, NG_051248.1:g.8203A>C

Select item 148940580315.

rs1489405803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:81682399 (GRCh38)
17:79649429 (GRCh37)
Canonical SPDI:: NC_000017.11:81682398:C:A,NC_000017.11:81682398:C:G,NC_000017.11:81682398:C:T
Gene:: HGS (Varview), ARL16 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.81682399C>A, NC_000017.11:g.81682399C>G, NC_000017.11:g.81682399C>T, NC_000017.10:g.79649429C>A, NC_000017.10:g.79649429C>G, NC_000017.10:g.79649429C>T, NG_051248.1:g.6526G>T, NG_051248.1:g.6526G>C, NG_051248.1:g.6526G>A, NM_001329608.2:c.-157G>T, NM_001329608.2:c.-157G>C, NM_001329608.2:c.-157G>A, NM_001329608.1:c.-157G>T, NM_001329608.1:c.-157G>C, NM_001329608.1:c.-157G>A

Select item 148940302216.

rs1489403022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:81686296 (GRCh38)
17:79653326 (GRCh37)
Canonical SPDI:: NC_000017.11:81686295:A:C,NC_000017.11:81686295:A:G
Gene:: HGS (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)
G=0.000008/2 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.81686296A>C, NC_000017.11:g.81686296A>G, NC_000017.10:g.79653326A>C, NC_000017.10:g.79653326A>G, NG_051248.1:g.2629T>G, NG_051248.1:g.2629T>C

Select item 148926119517.

rs1489261195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81682698 (GRCh38)
17:79649728 (GRCh37)
Canonical SPDI:: NC_000017.11:81682697:G:A
Gene:: HGS (Varview), ARL16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81682698G>A, NC_000017.10:g.79649728G>A, NG_051248.1:g.6227C>T

Select item 148845004818.

rs1488450048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:81686290 (GRCh38)
17:79653320 (GRCh37)
Canonical SPDI:: NC_000017.11:81686289:T:G
Gene:: HGS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81686290T>G, NC_000017.10:g.79653320T>G, NG_051248.1:g.2635A>C

Select item 148843003619.

rs1488430036 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCTGAGAACCTGC>- [Show Flanks]
Chromosome:: 17:81687827 (GRCh38)
17:79654857 (GRCh37)
Canonical SPDI:: NC_000017.11:81687825:CAGCTGAGAACCTGC:C
Gene:: HGS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81687827_81687840del, NC_000017.10:g.79654857_79654870del, NG_051248.1:g.1086_1099del

Select item 148840003220.

rs1488400032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:81683753 (GRCh38)
17:79650783 (GRCh37)
Canonical SPDI:: NC_000017.11:81683752:T:G
Gene:: HGS (Varview), ARL16 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,initiator_codon_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81683753T>G, NC_000017.10:g.79650783T>G, NG_051248.1:g.5172A>C, NM_001040025.3:c.1A>C, NM_001040025.2:c.73A>C, NM_001040025.1:c.73A>C, NM_001329608.2:c.-667A>C, NM_001329608.1:c.-667A>C, NR_138058.2:n.45A>C, NR_138058.1:n.172A>C, NM_001329609.2:c.-227A>C, NG_057354.1:g.155T>G, NP_001035114.2:p.Met1Leu

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