SNP Links for Nucleotide (Select 334085236) - SNP

Links from Nucleotide

Items: 1 to 20 of 630

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Select item 14899312551.

rs1489931255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44929416 (GRCh38)
21:46349331 (GRCh37)
Canonical SPDI:: NC_000021.9:44929415:T:G
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44929416T>G, NC_000021.8:g.46349331T>G, NG_007270.2:g.4423A>C, NR_038311.1:n.2131T>G, NR_038313.1:n.2107T>G, NR_038312.1:n.2088T>G, NR_038314.1:n.2036T>G, NR_038315.1:n.2032T>G, NR_038316.1:n.1993T>G

Select item 14874744772.

rs1487474477 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44928095 (GRCh38)
21:46348010 (GRCh37)
Canonical SPDI:: NC_000021.9:44928094:T:G
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000021.9:g.44928095T>G, NC_000021.8:g.46348010T>G, NG_007270.2:g.5744A>C, NG_081892.1:g.1066T>G, NR_038311.1:n.810T>G, NR_038313.1:n.786T>G, NR_038312.1:n.767T>G, NR_038314.1:n.715T>G, NR_038315.1:n.711T>G, NR_038316.1:n.672T>G

Select item 14865370763.

rs1486537076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44928496 (GRCh38)
21:46348411 (GRCh37)
Canonical SPDI:: NC_000021.9:44928495:C:G
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000021.9:g.44928496C>G, NC_000021.8:g.46348411C>G, NG_007270.2:g.5343G>C, NR_038311.1:n.1211C>G, NR_038313.1:n.1187C>G, NR_038312.1:n.1168C>G, NR_038314.1:n.1116C>G, NR_038315.1:n.1112C>G, NR_038316.1:n.1073C>G

Select item 14842173904.

rs1484217390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44927993 (GRCh38)
21:46347908 (GRCh37)
Canonical SPDI:: NC_000021.9:44927992:T:G
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.44927993T>G, NC_000021.8:g.46347908T>G, NG_007270.2:g.5846A>C, NG_081892.1:g.964T>G, NR_038311.1:n.708T>G, NR_038313.1:n.684T>G, NR_038312.1:n.665T>G, NR_038314.1:n.613T>G, NR_038315.1:n.609T>G, NR_038316.1:n.570T>G

Select item 14802487885.

rs1480248788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:44929013 (GRCh38)
21:46348928 (GRCh37)
Canonical SPDI:: NC_000021.9:44929012:G:A,NC_000021.9:44929012:G:T
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.44929013G>A, NC_000021.9:g.44929013G>T, NC_000021.8:g.46348928G>A, NC_000021.8:g.46348928G>T, NG_007270.2:g.4826C>T, NG_007270.2:g.4826C>A, NR_038311.1:n.1728G>A, NR_038311.1:n.1728G>T, NR_038313.1:n.1704G>A, NR_038313.1:n.1704G>T, NR_038312.1:n.1685G>A, NR_038312.1:n.1685G>T, NR_038314.1:n.1633G>A, NR_038314.1:n.1633G>T, NR_038315.1:n.1629G>A, NR_038315.1:n.1629G>T, NR_038316.1:n.1590G>A, NR_038316.1:n.1590G>T

Select item 14801019086.

rs1480101908 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCCTTCCTCACCCTGGATGCCTGTGGGC>-,TGCCTTCCTCACCCTGGATGCCTGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGC,TGCCTTCCTCACCCTGGATGCCTGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGC [Show Flanks]
Chromosome:: 21:44928820 (GRCh38)
21:46348735 (GRCh37)
Canonical SPDI:: NC_000021.9:44928812:TGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGC:TGTGGGC,NC_000021.9:44928812:TGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGC:TGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGC,NC_000021.9:44928812:TGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGC:TGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGC
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGCTGCCTTCCTCACCCTGGATGCCTGTGGGC=0.00013/2 (ALFA)
-=0.00067/11 (TOMMO)
HGVS:: NC_000021.9:g.44928820_44928848del, NC_000021.9:g.44928820_44928848dup, NC_000021.9:g.44928820TGCCTTCCTCACCCTGGATGCCTGTGGGC[3], NC_000021.8:g.46348735_46348763del, NC_000021.8:g.46348735_46348763dup, NC_000021.8:g.46348735TGCCTTCCTCACCCTGGATGCCTGTGGGC[3], NG_007270.2:g.4998_5026del, NG_007270.2:g.4998_5026dup, NG_007270.2:g.4998GGCATCCAGGGTGAGGAAGGCAGCCCACA[3], NR_038311.1:n.1535_1563del, NR_038311.1:n.1535_1563dup, NR_038311.1:n.1535TGCCTTCCTCACCCTGGATGCCTGTGGGC[3], NR_038313.1:n.1511_1539del, NR_038313.1:n.1511_1539dup, NR_038313.1:n.1511TGCCTTCCTCACCCTGGATGCCTGTGGGC[3], NR_038312.1:n.1492_1520del, NR_038312.1:n.1492_1520dup, NR_038312.1:n.1492TGCCTTCCTCACCCTGGATGCCTGTGGGC[3], NR_038314.1:n.1440_1468del, NR_038314.1:n.1440_1468dup, NR_038314.1:n.1440TGCCTTCCTCACCCTGGATGCCTGTGGGC[3], NR_038315.1:n.1436_1464del, NR_038315.1:n.1436_1464dup, NR_038315.1:n.1436TGCCTTCCTCACCCTGGATGCCTGTGGGC[3], NR_038316.1:n.1397_1425del, NR_038316.1:n.1397_1425dup, NR_038316.1:n.1397TGCCTTCCTCACCCTGGATGCCTGTGGGC[3]

Select item 14796918777.

rs1479691877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44929221 (GRCh38)
21:46349136 (GRCh37)
Canonical SPDI:: NC_000021.9:44929220:A:G
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000021.9:g.44929221A>G, NC_000021.8:g.46349136A>G, NG_007270.2:g.4618T>C, NR_038311.1:n.1936A>G, NR_038313.1:n.1912A>G, NR_038312.1:n.1893A>G, NR_038314.1:n.1841A>G, NR_038315.1:n.1837A>G, NR_038316.1:n.1798A>G

Select item 14795719778.

rs1479571977 [Homo sapiens]

Variant type:: SNV:
Alleles:: TGCCTTCCTC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14781735199.

rs1478173519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44928420 (GRCh38)
21:46348335 (GRCh37)
Canonical SPDI:: NC_000021.9:44928419:T:C
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000021.9:g.44928420T>C, NC_000021.8:g.46348335T>C, NG_007270.2:g.5419A>G, NG_081892.1:g.1391T>C, NR_038311.1:n.1135T>C, NR_038313.1:n.1111T>C, NR_038312.1:n.1092T>C, NR_038314.1:n.1040T>C, NR_038315.1:n.1036T>C, NR_038316.1:n.997T>C

Select item 147771841110.

rs1477718411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44921283 (GRCh38)
21:46341198 (GRCh37)
Canonical SPDI:: NC_000021.9:44921282:G:A
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44921283G>A, NC_000021.8:g.46341198G>A, NG_007270.2:g.12556C>T, NR_038311.1:n.249G>A, NR_038313.1:n.249G>A, NR_038312.1:n.249G>A, NR_038314.1:n.249G>A, NR_038315.1:n.249G>A, NR_038316.1:n.249G>A

Select item 147763253311.

rs1477632533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44928512 (GRCh38)
21:46348427 (GRCh37)
Canonical SPDI:: NC_000021.9:44928511:C:T
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44928512C>T, NC_000021.8:g.46348427C>T, NG_007270.2:g.5327G>A, NR_038311.1:n.1227C>T, NR_038313.1:n.1203C>T, NR_038312.1:n.1184C>T, NR_038314.1:n.1132C>T, NR_038315.1:n.1128C>T, NR_038316.1:n.1089C>T

Select item 147712033012.

rs1477120330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44928215 (GRCh38)
21:46348130 (GRCh37)
Canonical SPDI:: NC_000021.9:44928214:C:T
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44928215C>T, NC_000021.8:g.46348130C>T, NG_007270.2:g.5624G>A, NG_081892.1:g.1186C>T, NR_038311.1:n.930C>T, NR_038313.1:n.906C>T, NR_038312.1:n.887C>T, NR_038314.1:n.835C>T, NR_038315.1:n.831C>T, NR_038316.1:n.792C>T

Select item 147613473413.

rs1476134734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44928502 (GRCh38)
21:46348417 (GRCh37)
Canonical SPDI:: NC_000021.9:44928501:T:C
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000021.9:g.44928502T>C, NC_000021.8:g.46348417T>C, NG_007270.2:g.5337A>G, NR_038311.1:n.1217T>C, NR_038313.1:n.1193T>C, NR_038312.1:n.1174T>C, NR_038314.1:n.1122T>C, NR_038315.1:n.1118T>C, NR_038316.1:n.1079T>C

Select item 147566624914.

rs1475666249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44929162 (GRCh38)
21:46349077 (GRCh37)
Canonical SPDI:: NC_000021.9:44929161:C:G
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44929162C>G, NC_000021.8:g.46349077C>G, NG_007270.2:g.4677G>C, NR_038311.1:n.1877C>G, NR_038313.1:n.1853C>G, NR_038312.1:n.1834C>G, NR_038314.1:n.1782C>G, NR_038315.1:n.1778C>G, NR_038316.1:n.1739C>G

Select item 147512540715.

rs1475125407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44928689 (GRCh38)
21:46348604 (GRCh37)
Canonical SPDI:: NC_000021.9:44928688:T:G
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_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_000021.9:g.44928689T>G, NC_000021.8:g.46348604T>G, NG_007270.2:g.5150A>C, NM_001127491.3:c.-39A>C, NM_001127491.2:c.-39A>C, NM_001127491.1:c.-39A>C, NR_038311.1:n.1404T>G, NR_038313.1:n.1380T>G, NR_038312.1:n.1361T>G, NR_038314.1:n.1309T>G, NR_038315.1:n.1305T>G, NR_038316.1:n.1266T>G

Select item 147420587016.

rs1474205870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44929572 (GRCh38)
21:46349487 (GRCh37)
Canonical SPDI:: NC_000021.9:44929571:T:C
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.44929572T>C, NC_000021.8:g.46349487T>C, NG_007270.2:g.4267A>G, NR_038311.1:n.2287T>C, NR_038313.1:n.2263T>C, NR_038312.1:n.2244T>C, NR_038314.1:n.2192T>C, NR_038315.1:n.2188T>C, NR_038316.1:n.2149T>C

Select item 146922426617.

rs1469224266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44928427 (GRCh38)
21:46348342 (GRCh37)
Canonical SPDI:: NC_000021.9:44928426:G:A
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000021.9:g.44928427G>A, NC_000021.8:g.46348342G>A, NG_007270.2:g.5412C>T, NG_081892.1:g.1398G>A, NR_038311.1:n.1142G>A, NR_038313.1:n.1118G>A, NR_038312.1:n.1099G>A, NR_038314.1:n.1047G>A, NR_038315.1:n.1043G>A, NR_038316.1:n.1004G>A

Select item 146753536918.

rs1467535369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44929253 (GRCh38)
21:46349168 (GRCh37)
Canonical SPDI:: NC_000021.9:44929252:C:T
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.44929253C>T, NC_000021.8:g.46349168C>T, NG_007270.2:g.4586G>A, NR_038311.1:n.1968C>T, NR_038313.1:n.1944C>T, NR_038312.1:n.1925C>T, NR_038314.1:n.1873C>T, NR_038315.1:n.1869C>T, NR_038316.1:n.1830C>T

Select item 146633056819.

rs1466330568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:44921270 (GRCh38)
21:46341185 (GRCh37)
Canonical SPDI:: NC_000021.9:44921269:G:A,NC_000021.9:44921269:G:T
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44921270G>A, NC_000021.9:g.44921270G>T, NC_000021.8:g.46341185G>A, NC_000021.8:g.46341185G>T, NG_007270.2:g.12569C>T, NG_007270.2:g.12569C>A, NR_038311.1:n.236G>A, NR_038311.1:n.236G>T, NR_038313.1:n.236G>A, NR_038313.1:n.236G>T, NR_038312.1:n.236G>A, NR_038312.1:n.236G>T, NR_038314.1:n.236G>A, NR_038314.1:n.236G>T, NR_038315.1:n.236G>A, NR_038315.1:n.236G>T, NR_038316.1:n.236G>A, NR_038316.1:n.236G>T

Select item 146589741220.

rs1465897412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44921193 (GRCh38)
21:46341108 (GRCh37)
Canonical SPDI:: NC_000021.9:44921192:G:A
Gene:: ITGB2 (Varview), ITGB2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44921193G>A, NC_000021.8:g.46341108G>A, NG_007270.2:g.12646C>T, NR_038311.1:n.159G>A, NR_038313.1:n.159G>A, NR_038312.1:n.159G>A, NR_038314.1:n.159G>A, NR_038315.1:n.159G>A, NR_038316.1:n.159G>A

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