SNP Links for Nucleotide (Select 527317370) - SNP

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Links from Nucleotide

Items: 1 to 20 of 1269

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Select item 14899729581.

rs1489972958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:53421910 (GRCh38)
X:53448860 (GRCh37)
Canonical SPDI:: NC_000023.11:53421909:G:A
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.53421910G>A, NW_004070877.1:g.3135025G>A, NG_006988.2:g.5761C>T, NM_001281463.1:c.28C>T, NG_033076.2:g.4056G>A, NC_000023.10:g.53448860G>A, NP_001268392.1:p.His10Tyr

Select item 14888953232.

rs1488895323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:53377733 (GRCh38)
X:53404654 (GRCh37)
Canonical SPDI:: NC_000023.11:53377732:C:T
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.53377733C>T, NW_004070877.1:g.3090848C>T, NG_006988.2:g.49938G>A, NM_006306.4:c.*2370G>A, NM_006306.3:c.*2370G>A, NM_001281463.1:c.*2370G>A, NC_000023.10:g.53404654C>T

Select item 14887937353.

rs1488793735 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAA>- [Show Flanks]
Chromosome:: X:53378337 (GRCh38)
X:53405258 (GRCh37)
Canonical SPDI:: NC_000023.11:53378332:GTAAGTAA:GTAA
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTAAGTAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000058/6 (GnomAD)
HGVS:: NC_000023.11:g.53378333GTAA[1], NW_004070877.1:g.3091448GTAA[1], NG_006988.2:g.49331TTAC[1], NM_006306.4:c.*1763TTAC[1], NM_006306.3:c.*1763TTAC[1], NM_001281463.1:c.*1763TTAC[1], NC_000023.10:g.53405254GTAA[1]

Select item 14883744484.

rs1488374448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:53377700 (GRCh38)
X:53404621 (GRCh37)
Canonical SPDI:: NC_000023.11:53377699:G:A
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.53377700G>A, NW_004070877.1:g.3090815G>A, NG_006988.2:g.49971C>T, NM_006306.4:c.*2403C>T, NM_006306.3:c.*2403C>T, NM_001281463.1:c.*2403C>T, NC_000023.10:g.53404621G>A

Select item 14870232045.

rs1487023204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:53378716 (GRCh38)
X:53405637 (GRCh37)
Canonical SPDI:: NC_000023.11:53378715:G:A
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.53378716G>A, NW_004070877.1:g.3091831G>A, NG_006988.2:g.48955C>T, NM_006306.4:c.*1387C>T, NM_006306.3:c.*1387C>T, NM_001281463.1:c.*1387C>T, NC_000023.10:g.53405637G>A

Select item 14869089256.

rs1486908925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:53376271 (GRCh38)
X:53403192 (GRCh37)
Canonical SPDI:: NC_000023.11:53376270:A:G
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.53376271A>G, NW_004070877.1:g.3089386A>G, NG_006988.2:g.51400T>C, NM_006306.4:c.*3832T>C, NM_006306.3:c.*3832T>C, NM_001281463.1:c.*3832T>C, NC_000023.10:g.53403192A>G

Select item 14867128137.

rs1486712813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:53377903 (GRCh38)
X:53404824 (GRCh37)
Canonical SPDI:: NC_000023.11:53377902:A:G
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.53377903A>G, NW_004070877.1:g.3091018A>G, NG_006988.2:g.49768T>C, NM_006306.4:c.*2200T>C, NM_006306.3:c.*2200T>C, NM_001281463.1:c.*2200T>C, NC_000023.10:g.53404824A>G

Select item 14864121968.

rs1486412196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:53376264 (GRCh38)
X:53403185 (GRCh37)
Canonical SPDI:: NC_000023.11:53376263:T:C
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.53376264T>C, NW_004070877.1:g.3089379T>C, NG_006988.2:g.51407A>G, NM_006306.4:c.*3839A>G, NM_006306.3:c.*3839A>G, NM_001281463.1:c.*3839A>G, NC_000023.10:g.53403185T>C

Select item 14853404049.

rs1485340404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:53375645 (GRCh38)
X:53402566 (GRCh37)
Canonical SPDI:: NC_000023.11:53375644:C:G
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.53375645C>G, NW_004070877.1:g.3088760C>G, NG_006988.2:g.52026G>C, NM_006306.4:c.*4458G>C, NM_006306.3:c.*4458G>C, NM_001281463.1:c.*4458G>C, NC_000023.10:g.53402566C>G

Select item 148526995810.

rs1485269958 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:53375569 (GRCh38)
X:53402491 (GRCh37)
Canonical SPDI:: NC_000023.11:53375569:T:TT
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.53375570dup, NW_004070877.1:g.3088685dup, NG_006988.2:g.52101dup, NM_006306.4:c.*4533dup, NM_006306.3:c.*4533dup, NM_001281463.1:c.*4533dup, NC_000023.10:g.53402491dup

Select item 148507330711.

rs1485073307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:53396296 (GRCh38)
X:53423216 (GRCh37)
Canonical SPDI:: NC_000023.11:53396295:C:A
Gene:: SMC1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.53396296C>A, NW_004070877.1:g.3109411C>A, NG_006988.2:g.31375G>T, NM_006306.4:c.2793G>T, NM_006306.3:c.2793G>T, NM_001281463.1:c.2727G>T, NC_000023.10:g.53423216C>A, NP_006297.2:p.Gln931His, NP_001268392.1:p.Gln909His

Select item 148501529012.

rs1485015290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:53374901 (GRCh38)
X:53401822 (GRCh37)
Canonical SPDI:: NC_000023.11:53374900:C:T
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000038/10 (TOPMED)
T=0.000045/1 (TOMMO)
T=0.001711/5 (KOREAN)
HGVS:: NC_000023.11:g.53374901C>T, NW_004070877.1:g.3088016C>T, NG_006988.2:g.52770G>A, NM_006306.4:c.*5202G>A, NM_006306.3:c.*5202G>A, NM_001281463.1:c.*5202G>A, NC_000023.10:g.53401822C>T

Select item 148443022113.

rs1484430221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:53374749 (GRCh38)
X:53401670 (GRCh37)
Canonical SPDI:: NC_000023.11:53374748:G:A
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.53374749G>A, NW_004070877.1:g.3087864G>A, NG_006988.2:g.52922C>T, NM_006306.4:c.*5354C>T, NM_006306.3:c.*5354C>T, NM_001281463.1:c.*5354C>T, NC_000023.10:g.53401670G>A

Select item 148438906314.

rs1484389063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:53379638 (GRCh38)
X:53406559 (GRCh37)
Canonical SPDI:: NC_000023.11:53379637:A:G
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.53379638A>G, NW_004070877.1:g.3092753A>G, NG_006988.2:g.48033T>C, NM_006306.4:c.*465T>C, NM_006306.3:c.*465T>C, NM_001281463.1:c.*465T>C, NC_000023.10:g.53406559A>G

Select item 148337578615.

rs1483375786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:53374224 (GRCh38)
X:53401145 (GRCh37)
Canonical SPDI:: NC_000023.11:53374223:A:G
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.53374224A>G, NW_004070877.1:g.3087339A>G, NG_006988.2:g.53447T>C, NM_006306.4:c.*5879T>C, NM_006306.3:c.*5879T>C, NM_001281463.1:c.*5879T>C, NC_000023.10:g.53401145A>G

Select item 148242628016.

rs1482426280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:53378079 (GRCh38)
X:53405000 (GRCh37)
Canonical SPDI:: NC_000023.11:53378078:A:G
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.53378079A>G, NW_004070877.1:g.3091194A>G, NG_006988.2:g.49592T>C, NM_006306.4:c.*2024T>C, NM_006306.3:c.*2024T>C, NM_001281463.1:c.*2024T>C, NC_000023.10:g.53405000A>G

Select item 148045017817.

rs1480450178 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:53376606 (GRCh38)
X:53403527 (GRCh37)
Canonical SPDI:: NC_000023.11:53376605:T:C
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000053/14 (TOPMED)
C=0.000067/7 (GnomAD)
HGVS:: NC_000023.11:g.53376606T>C, NW_004070877.1:g.3089721T>C, NG_006988.2:g.51065A>G, NM_006306.4:c.*3497A>G, NM_006306.3:c.*3497A>G, NM_001281463.1:c.*3497A>G, NC_000023.10:g.53403527T>C

Select item 148036070618.

rs1480360706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:53374930 (GRCh38)
X:53401851 (GRCh37)
Canonical SPDI:: NC_000023.11:53374929:T:C
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.53374930T>C, NW_004070877.1:g.3088045T>C, NG_006988.2:g.52741A>G, NM_006306.4:c.*5173A>G, NM_006306.3:c.*5173A>G, NM_001281463.1:c.*5173A>G, NC_000023.10:g.53401851T>C

Select item 147893057019.

rs1478930570 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCT>- [Show Flanks]
Chromosome:: X:53374399 (GRCh38)
X:53401320 (GRCh37)
Canonical SPDI:: NC_000023.11:53374394:TTCTTTCT:TTCT
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTTCT=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000019/2 (GnomAD)
-=0.000078/1 (TOMMO)
HGVS:: NC_000023.11:g.53374395TTCT[1], NW_004070877.1:g.3087510TTCT[1], NG_006988.2:g.53269AGAA[1], NM_006306.4:c.*5701AGAA[1], NM_006306.3:c.*5701AGAA[1], NM_001281463.1:c.*5701AGAA[1], NC_000023.10:g.53401316TTCT[1]

Select item 147682326420.

rs1476823264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:53377160 (GRCh38)
X:53404081 (GRCh37)
Canonical SPDI:: NC_000023.11:53377159:T:C
Gene:: SMC1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.53377160T>C, NW_004070877.1:g.3090275T>C, NG_006988.2:g.50511A>G, NM_006306.4:c.*2943A>G, NM_006306.3:c.*2943A>G, NM_001281463.1:c.*2943A>G, NC_000023.10:g.53404081T>C

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