SNP Links for Nucleotide (Select 532525020) - SNP

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Links from Nucleotide

Items: 1 to 20 of 2176

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Select item 14901427851.

rs1490142785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:53427289 (GRCh38)
X:53454237 (GRCh37)
Canonical SPDI:: NC_000023.11:53427288:C:T
Gene:: RIBC1 (Varview)
Functional Consequence:: intron_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.53427289C>T, NW_004070877.1:g.3140404C>T, NG_006988.2:g.382G>A, NG_033076.2:g.9435C>T, NC_000023.10:g.53454237C>T

Select item 14900106072.

rs1490010607 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:53423237 (GRCh38)
X:53450187 (GRCh37)
Canonical SPDI:: NC_000023.11:53423237:A:AA
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.53423238dup, NW_004070877.1:g.3136353dup, NG_006988.2:g.4433dup, NG_033076.2:g.5384dup, NC_000023.10:g.53450187dup

Select item 14899729583.

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 14885356564.

rs1488535656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:53422799 (GRCh38)
X:53449748 (GRCh37)
Canonical SPDI:: NC_000023.11:53422798:G:C
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.53422799G>C, NW_004070877.1:g.3135914G>C, NG_006988.2:g.4872C>G, NG_033076.2:g.4945G>C, NC_000023.10:g.53449748G>C

Select item 14885177225.

rs1488517722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:53423227 (GRCh38)
X:53450176 (GRCh37)
Canonical SPDI:: NC_000023.11:53423226:T:A
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.53423227T>A, NW_004070877.1:g.3136342T>A, NG_006988.2:g.4444A>T, NG_033076.2:g.5373T>A, NC_000023.10:g.53450176T>A

Select item 14884745466.

rs1488474546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:53424214 (GRCh38)
X:53451163 (GRCh37)
Canonical SPDI:: NC_000023.11:53424213:T:G
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.53424214T>G, NW_004070877.1:g.3137329T>G, NG_006988.2:g.3457A>C, NG_033076.2:g.6360T>G, NC_000023.10:g.53451163T>G

Select item 14882119097.

rs1488211909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:53422294 (GRCh38)
X:53449244 (GRCh37)
Canonical SPDI:: NC_000023.11:53422293:C:T
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.53422294C>T, NW_004070877.1:g.3135409C>T, NG_006988.2:g.5377G>A, NG_033076.2:g.4440C>T, NC_000023.10:g.53449244C>T

Select item 14881668518.

rs1488166851 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACC>- [Show Flanks]
Chromosome:: X:53423452 (GRCh38)
X:53450401 (GRCh37)
Canonical SPDI:: NC_000023.11:53423450:CCACC:C
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.53423452_53423455del, NW_004070877.1:g.3136567_3136570del, NG_006988.2:g.4217_4220del, NG_033076.2:g.5598_5601del, NC_000023.10:g.53450401_53450404del

Select item 14881307759.

rs1488130775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:53423997 (GRCh38)
X:53450946 (GRCh37)
Canonical SPDI:: NC_000023.11:53423996:C:G
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.53423997C>G, NW_004070877.1:g.3137112C>G, NG_006988.2:g.3674G>C, NG_033076.2:g.6143C>G, NC_000023.10:g.53450946C>G

Select item 148790914210.

rs1487909142 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: X:53430875 (GRCh38)
X:53457823 (GRCh37)
Canonical SPDI:: NC_000023.11:53430874:T:
Gene:: HSD17B10 (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.53430875del, NW_004070877.1:g.3143990del, NG_033076.2:g.13021del, NM_001267053.4:c.*81del, NM_001267053.3:c.*81del, NG_008153.1:g.8501del, NC_000023.10:g.53457823del

Select item 148774301711.

rs1487743017 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAG>- [Show Flanks]
Chromosome:: X:53426520 (GRCh38)
X:53453468 (GRCh37)
Canonical SPDI:: NC_000023.11:53426512:AGGAAAGGAAAG:AGGAAAG
Gene:: RIBC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGAAAG=0./0 (ALFA)
-=0.000019/2 (GnomAD)
-=0.000019/5 (TOPMED)
-=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.53426515GAAAG[1], NW_004070877.1:g.3139630GAAAG[1], NG_006988.2:g.1149TTCCT[1], NG_033076.2:g.8661GAAAG[1], NC_000023.10:g.53453463GAAAG[1]

Select item 148670050812.

rs1486700508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:53420280 (GRCh38)
X:53447230 (GRCh37)
Canonical SPDI:: NC_000023.11:53420279:T:C
Gene:: SMC1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000023.11:g.53420280T>C, NW_004070877.1:g.3133395T>C, NG_006988.2:g.7391A>G, NG_033076.2:g.2426T>C, NC_000023.10:g.53447230T>C

Select item 148655512213.

rs1486555122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:53422215 (GRCh38)
X:53449165 (GRCh37)
Canonical SPDI:: NC_000023.11:53422214:G:C
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.53422215G>C, NW_004070877.1:g.3135330G>C, NG_006988.2:g.5456C>G, NG_033076.2:g.4361G>C, NC_000023.10:g.53449165G>C

Select item 148626397814.

rs1486263978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:53421287 (GRCh38)
X:53448237 (GRCh37)
Canonical SPDI:: NC_000023.11:53421286:G:A
Gene:: SMC1A (Varview), RIBC1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.53421287G>A, NW_004070877.1:g.3134402G>A, NG_006988.2:g.6384C>T, NG_033076.2:g.3433G>A, NC_000023.10:g.53448237G>A

Select item 148568534515.

rs1485685345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:53426676 (GRCh38)
X:53453624 (GRCh37)
Canonical SPDI:: NC_000023.11:53426675:G:C
Gene:: RIBC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.53426676G>C, NW_004070877.1:g.3139791G>C, NG_006988.2:g.995C>G, NG_033076.2:g.8822G>C, NC_000023.10:g.53453624G>C

Select item 148563390316.

rs1485633903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:53425108 (GRCh38)
X:53452057 (GRCh37)
Canonical SPDI:: NC_000023.11:53425107:A:G
Gene:: RIBC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.53425108A>G, NW_004070877.1:g.3138223A>G, NG_006988.2:g.2563T>C, NG_033076.2:g.7254A>G, NC_000023.10:g.53452057A>G

Select item 148500034517.

rs1485000345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:53433104 (GRCh38)
X:53460051 (GRCh37)
Canonical SPDI:: NC_000023.11:53433103:C:G
Gene:: HSD17B10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.53433104C>G, NW_004070877.1:g.3146219C>G, NG_033076.2:g.15250C>G, NG_008153.1:g.6273G>C, NC_000023.10:g.53460051C>G

Select item 148471293018.

rs1484712930 has merged into rs1248197053 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: X:53419540 (GRCh38)
X:53446490 (GRCh37)
Canonical SPDI:: NC_000023.11:53419527:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:53419527:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:53419527:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:53419527:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: SMC1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.00078/10 (TOMMO)
HGVS:: NC_000023.11:g.53419540_53419541del, NC_000023.11:g.53419541del, NC_000023.11:g.53419541dup, NC_000023.11:g.53419540_53419541dup, NW_004070877.1:g.3132655_3132656del, NW_004070877.1:g.3132656del, NW_004070877.1:g.3132656dup, NW_004070877.1:g.3132655_3132656dup, NG_006988.2:g.8142_8143del, NG_006988.2:g.8143del, NG_006988.2:g.8143dup, NG_006988.2:g.8142_8143dup, NG_033076.2:g.1686_1687del, NG_033076.2:g.1687del, NG_033076.2:g.1687dup, NG_033076.2:g.1686_1687dup, NC_000023.10:g.53446490_53446491del, NC_000023.10:g.53446491del, NC_000023.10:g.53446491dup, NC_000023.10:g.53446490_53446491dup

Select item 148462121019.

rs1484621210 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:53420448 (GRCh38)
X:53447399 (GRCh37)
Canonical SPDI:: NC_000023.11:53420448:AA:AAA
Gene:: SMC1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.53420450dup, NW_004070877.1:g.3133565dup, NG_006988.2:g.7222dup, NG_033076.2:g.2596dup, NC_000023.10:g.53447400dup

Select item 148429217120.

rs1484292171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:53419818 (GRCh38)
X:53446768 (GRCh37)
Canonical SPDI:: NC_000023.11:53419817:C:T
Gene:: SMC1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.53419818C>T, NW_004070877.1:g.3132933C>T, NG_006988.2:g.7853G>A, NG_033076.2:g.1964C>T, NC_000023.10:g.53446768C>T

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