SNP Links for Gene (Select 340719) - SNP

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Select item 14912598031.

rs1491259803 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGGAAGGAAAGAAG [Show Flanks]
Chromosome:: 10:119028626 (GRCh38)
10:120788139 (GRCh37)
Canonical SPDI:: NC_000010.11:119028626:GAAG:GAAGAAGGAAGGAAAGAAG
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000010.11:g.119028627_119028630GAA[2]GGAA[2]AGAAG[1], NC_000010.10:g.120788139_120788142GAA[2]GGAA[2]AGAAG[1], NG_050764.1:g.3912_3915GAA[2]GGAA[2]AGAAG[1]

Select item 14912458902.

rs1491245890 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 10:119028626 (GRCh38)
10:120788138 (GRCh37)
Canonical SPDI:: NC_000010.11:119028625:GG:
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.0004/1 (GnomAD)
HGVS:: NC_000010.11:g.119028626_119028627del, NC_000010.10:g.120788138_120788139del, NG_050764.1:g.3911_3912del

Select item 14912438083.

rs1491243808 has merged into rs55829175 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 10:119028778 (GRCh38)
10:120788290 (GRCh37)
Canonical SPDI:: NC_000010.11:119028766:ACACACACACACACACA:ACACACACACA,NC_000010.11:119028766:ACACACACACACACACA:ACACACACACACA,NC_000010.11:119028766:ACACACACACACACACA:ACACACACACACACA,NC_000010.11:119028766:ACACACACACACACACA:ACACACACACACACACACA,NC_000010.11:119028766:ACACACACACACACACA:ACACACACACACACACACACA,NC_000010.11:119028766:ACACACACACACACACA:ACACACACACACACACACACACA
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
-=0.021/89 (Estonian)
-=0.0909/18 (Vietnamese)
-=0.2955/1480 (1000Genomes)
HGVS:: NC_000010.11:g.119028768CA[5], NC_000010.11:g.119028768CA[6], NC_000010.11:g.119028768CA[7], NC_000010.11:g.119028768CA[9], NC_000010.11:g.119028768CA[10], NC_000010.11:g.119028768CA[11], NC_000010.10:g.120788280CA[5], NC_000010.10:g.120788280CA[6], NC_000010.10:g.120788280CA[7], NC_000010.10:g.120788280CA[9], NC_000010.10:g.120788280CA[10], NC_000010.10:g.120788280CA[11], NG_050764.1:g.4053CA[5], NG_050764.1:g.4053CA[6], NG_050764.1:g.4053CA[7], NG_050764.1:g.4053CA[9], NG_050764.1:g.4053CA[10], NG_050764.1:g.4053CA[11]

Select item 14910408444.

rs1491040844 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 10:119028654 (GRCh38)
10:120788166 (GRCh37)
Canonical SPDI:: NC_000010.11:119028653:GG:
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000009/1 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000010.11:g.119028654_119028655del, NC_000010.10:g.120788166_120788167del, NG_050764.1:g.3939_3940del

Select item 14907487055.

rs1490748705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:119031279 (GRCh38)
10:120790791 (GRCh37)
Canonical SPDI:: NC_000010.11:119031278:G:C
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,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_000010.11:g.119031279G>C, NC_000010.10:g.120790791G>C, NG_050764.1:g.6564G>C, NM_199461.4:c.*599G>C, NM_199461.3:c.*599G>C, NM_199461.2:c.*599G>C, NM_001009553.1:c.*462G>C

Select item 14905592156.

rs1490559215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:119029989 (GRCh38)
10:120789501 (GRCh37)
Canonical SPDI:: NC_000010.11:119029988:T:A
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_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_000010.11:g.119029989T>A, NC_000010.10:g.120789501T>A, NG_050764.1:g.5274T>A, NM_199461.4:c.188T>A, NM_199461.3:c.188T>A, NM_199461.2:c.188T>A, NM_001009553.1:c.188T>A, NP_955631.1:p.Phe63Tyr

Select item 14902532357.

rs1490253235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119029827 (GRCh38)
10:120789339 (GRCh37)
Canonical SPDI:: NC_000010.11:119029826:G:A
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.119029827G>A, NC_000010.10:g.120789339G>A, NG_050764.1:g.5112G>A, NM_199461.4:c.26G>A, NM_199461.3:c.26G>A, NM_199461.2:c.26G>A, NM_001009553.1:c.26G>A, NP_955631.1:p.Arg9His

Select item 14902278688.

rs1490227868 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:119030621 (GRCh38)
10:120790133 (GRCh37)
Canonical SPDI:: NC_000010.11:119030620:CCC:CC
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.119030623del, NC_000010.10:g.120790135del, NG_050764.1:g.5908del, NM_199461.4:c.822del, NM_199461.3:c.822del, NM_199461.2:c.822del, NP_955631.1:p.Ala275fs

Select item 14898813529.

rs1489881352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119028072 (GRCh38)
10:120787584 (GRCh37)
Canonical SPDI:: NC_000010.11:119028071:C:T
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119028072C>T, NC_000010.10:g.120787584C>T, NG_050764.1:g.3357C>T

Select item 148984822310.

rs1489848223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119028628 (GRCh38)
10:120788140 (GRCh37)
Canonical SPDI:: NC_000010.11:119028627:A:G
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.119028628A>G, NC_000010.10:g.120788140A>G, NG_050764.1:g.3913A>G

Select item 148968073311.

rs1489680733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:119030298 (GRCh38)
10:120789810 (GRCh37)
Canonical SPDI:: NC_000010.11:119030297:C:A
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.119030298C>A, NC_000010.10:g.120789810C>A, NG_050764.1:g.5583C>A, NM_199461.4:c.497C>A, NM_199461.3:c.497C>A, NM_199461.2:c.497C>A, NP_955631.1:p.Ala166Glu

Select item 148956087612.

rs1489560876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:119028221 (GRCh38)
10:120787733 (GRCh37)
Canonical SPDI:: NC_000010.11:119028220:C:A
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119028221C>A, NC_000010.10:g.120787733C>A, NG_050764.1:g.3506C>A

Select item 148940383513.

rs1489403835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119033132 (GRCh38)
10:120792644 (GRCh37)
Canonical SPDI:: NC_000010.11:119033131:G:A
Gene:: NANOS1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000010.11:g.119033132G>A, NC_000010.10:g.120792644G>A, NG_050764.1:g.8417G>A, NM_199461.4:c.*2452G>A, NM_199461.3:c.*2452G>A, NM_199461.2:c.*2452G>A, NM_001009553.1:c.*2315G>A

Select item 148827120914.

rs1488271209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:119030868 (GRCh38)
10:120790380 (GRCh37)
Canonical SPDI:: NC_000010.11:119030867:C:G
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_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_000010.11:g.119030868C>G, NC_000010.10:g.120790380C>G, NG_050764.1:g.6153C>G, NM_199461.4:c.*188C>G, NM_199461.3:c.*188C>G, NM_199461.2:c.*188C>G, NM_001009553.1:c.*51C>G

Select item 148701912415.

rs1487019124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:119028410 (GRCh38)
10:120787922 (GRCh37)
Canonical SPDI:: NC_000010.11:119028409:C:G
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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_000010.11:g.119028410C>G, NC_000010.10:g.120787922C>G, NG_050764.1:g.3695C>G

Select item 148676331416.

rs1486763314 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:119029668 (GRCh38)
10:120789180 (GRCh37)
Canonical SPDI:: NC_000010.11:119029667:C:
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.119029668del, NC_000010.10:g.120789180del, NG_050764.1:g.4953del

Select item 148633202517.

rs1486332025 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 10:119032513 (GRCh38)
10:120792025 (GRCh37)
Canonical SPDI:: NC_000010.11:119032510:CTTCT:CT
Gene:: NANOS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119032513_119032515del, NC_000010.10:g.120792025_120792027del, NG_050764.1:g.7798_7800del, NM_199461.4:c.*1833_*1835del, NM_199461.3:c.*1833_*1835del, NM_199461.2:c.*1833_*1835del, NM_001009553.1:c.*1696_*1698del

Select item 148631113418.

rs1486311134 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:119031570 (GRCh38)
10:120791082 (GRCh37)
Canonical SPDI:: NC_000010.11:119031567:CTCT:CT
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119031568CT[1], NC_000010.10:g.120791080CT[1], NG_050764.1:g.6853CT[1], NM_199461.4:c.*888CT[1], NM_199461.3:c.*888CT[1], NM_199461.2:c.*888CT[1], NM_001009553.1:c.*751CT[1]

Select item 148613324919.

rs1486133249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119029786 (GRCh38)
10:120789298 (GRCh37)
Canonical SPDI:: NC_000010.11:119029785:G:A
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000010.11:g.119029786G>A, NC_000010.10:g.120789298G>A, NG_050764.1:g.5071G>A, NM_199461.4:c.-16G>A, NM_199461.3:c.-16G>A, NM_199461.2:c.-16G>A, NM_001009553.1:c.-16G>A

Select item 148608245420.

rs1486082454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119029808 (GRCh38)
10:120789320 (GRCh37)
Canonical SPDI:: NC_000010.11:119029807:G:A
Gene:: NANOS1 (Varview), LOC124902512 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119029808G>A, NC_000010.10:g.120789320G>A, NG_050764.1:g.5093G>A, NM_199461.4:c.7G>A, NM_199461.3:c.7G>A, NM_199461.2:c.7G>A, NM_001009553.1:c.7G>A, NP_955631.1:p.Ala3Thr

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