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Select item 14915515821.

rs1491551582 [Homo sapiens]

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

Select item 14914830782.

rs1491483078 has merged into rs56754416 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACA>-,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 3:181740332 (GRCh38)
3:181458120 (GRCh37)
Canonical SPDI:: NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:181740317:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000003.12:g.181740318CA[7], NC_000003.12:g.181740318CA[11], NC_000003.12:g.181740318CA[12], NC_000003.12:g.181740318CA[13], NC_000003.12:g.181740318CA[14], NC_000003.12:g.181740318CA[15], NC_000003.12:g.181740318CA[16], NC_000003.12:g.181740318CA[17], NC_000003.12:g.181740318CA[18], NC_000003.12:g.181740318CA[19], NC_000003.12:g.181740318CA[20], NC_000003.12:g.181740318CA[22], NC_000003.12:g.181740318CA[23], NC_000003.12:g.181740318CA[24], NC_000003.12:g.181740318CA[25], NC_000003.12:g.181740318CA[26], NC_000003.12:g.181740318CA[27], NC_000003.12:g.181740318CA[28], NC_000003.12:g.181740318CA[29], NC_000003.12:g.181740318CA[30], NC_000003.12:g.181740318CA[31], NC_000003.11:g.181458106CA[7], NC_000003.11:g.181458106CA[11], NC_000003.11:g.181458106CA[12], NC_000003.11:g.181458106CA[13], NC_000003.11:g.181458106CA[14], NC_000003.11:g.181458106CA[15], NC_000003.11:g.181458106CA[16], NC_000003.11:g.181458106CA[17], NC_000003.11:g.181458106CA[18], NC_000003.11:g.181458106CA[19], NC_000003.11:g.181458106CA[20], NC_000003.11:g.181458106CA[22], NC_000003.11:g.181458106CA[23], NC_000003.11:g.181458106CA[24], NC_000003.11:g.181458106CA[25], NC_000003.11:g.181458106CA[26], NC_000003.11:g.181458106CA[27], NC_000003.11:g.181458106CA[28], NC_000003.11:g.181458106CA[29], NC_000003.11:g.181458106CA[30], NC_000003.11:g.181458106CA[31], NR_004053.3:n.1625CA[7], NR_004053.3:n.1625CA[11], NR_004053.3:n.1625CA[12], NR_004053.3:n.1625CA[13], NR_004053.3:n.1625CA[14], NR_004053.3:n.1625CA[15], NR_004053.3:n.1625CA[16], NR_004053.3:n.1625CA[17], NR_004053.3:n.1625CA[18], NR_004053.3:n.1625CA[19], NR_004053.3:n.1625CA[20], NR_004053.3:n.1625CA[22], NR_004053.3:n.1625CA[23], NR_004053.3:n.1625CA[24], NR_004053.3:n.1625CA[25], NR_004053.3:n.1625CA[26], NR_004053.3:n.1625CA[27], NR_004053.3:n.1625CA[28], NR_004053.3:n.1625CA[29], NR_004053.3:n.1625CA[30], NR_004053.3:n.1625CA[31], NR_075091.1:n.1640CA[7], NR_075091.1:n.1640CA[11], NR_075091.1:n.1640CA[12], NR_075091.1:n.1640CA[13], NR_075091.1:n.1640CA[14], NR_075091.1:n.1640CA[15], NR_075091.1:n.1640CA[16], NR_075091.1:n.1640CA[17], NR_075091.1:n.1640CA[18], NR_075091.1:n.1640CA[19], NR_075091.1:n.1640CA[20], NR_075091.1:n.1640CA[22], NR_075091.1:n.1640CA[23], NR_075091.1:n.1640CA[24], NR_075091.1:n.1640CA[25], NR_075091.1:n.1640CA[26], NR_075091.1:n.1640CA[27], NR_075091.1:n.1640CA[28], NR_075091.1:n.1640CA[29], NR_075091.1:n.1640CA[30], NR_075091.1:n.1640CA[31], NR_075092.1:n.1532CA[7], NR_075092.1:n.1532CA[11], NR_075092.1:n.1532CA[12], NR_075092.1:n.1532CA[13], NR_075092.1:n.1532CA[14], NR_075092.1:n.1532CA[15], NR_075092.1:n.1532CA[16], NR_075092.1:n.1532CA[17], NR_075092.1:n.1532CA[18], NR_075092.1:n.1532CA[19], NR_075092.1:n.1532CA[20], NR_075092.1:n.1532CA[22], NR_075092.1:n.1532CA[23], NR_075092.1:n.1532CA[24], NR_075092.1:n.1532CA[25], NR_075092.1:n.1532CA[26], NR_075092.1:n.1532CA[27], NR_075092.1:n.1532CA[28], NR_075092.1:n.1532CA[29], NR_075092.1:n.1532CA[30], NR_075092.1:n.1532CA[31], NR_075089.1:n.1517CA[7], NR_075089.1:n.1517CA[11], NR_075089.1:n.1517CA[12], NR_075089.1:n.1517CA[13], NR_075089.1:n.1517CA[14], NR_075089.1:n.1517CA[15], NR_075089.1:n.1517CA[16], NR_075089.1:n.1517CA[17], NR_075089.1:n.1517CA[18], NR_075089.1:n.1517CA[19], NR_075089.1:n.1517CA[20], NR_075089.1:n.1517CA[22], NR_075089.1:n.1517CA[23], NR_075089.1:n.1517CA[24], NR_075089.1:n.1517CA[25], NR_075089.1:n.1517CA[26], NR_075089.1:n.1517CA[27], NR_075089.1:n.1517CA[28], NR_075089.1:n.1517CA[29], NR_075089.1:n.1517CA[30], NR_075089.1:n.1517CA[31], NR_075090.1:n.1231CA[7], NR_075090.1:n.1231CA[11], NR_075090.1:n.1231CA[12], NR_075090.1:n.1231CA[13], NR_075090.1:n.1231CA[14], NR_075090.1:n.1231CA[15], NR_075090.1:n.1231CA[16], NR_075090.1:n.1231CA[17], NR_075090.1:n.1231CA[18], NR_075090.1:n.1231CA[19], NR_075090.1:n.1231CA[20], NR_075090.1:n.1231CA[22], NR_075090.1:n.1231CA[23], NR_075090.1:n.1231CA[24], NR_075090.1:n.1231CA[25], NR_075090.1:n.1231CA[26], NR_075090.1:n.1231CA[27], NR_075090.1:n.1231CA[28], NR_075090.1:n.1231CA[29], NR_075090.1:n.1231CA[30], NR_075090.1:n.1231CA[31], NR_075093.1:n.1222CA[7], NR_075093.1:n.1222CA[11], NR_075093.1:n.1222CA[12], NR_075093.1:n.1222CA[13], NR_075093.1:n.1222CA[14], NR_075093.1:n.1222CA[15], NR_075093.1:n.1222CA[16], NR_075093.1:n.1222CA[17], NR_075093.1:n.1222CA[18], NR_075093.1:n.1222CA[19], NR_075093.1:n.1222CA[20], NR_075093.1:n.1222CA[22], NR_075093.1:n.1222CA[23], NR_075093.1:n.1222CA[24], NR_075093.1:n.1222CA[25], NR_075093.1:n.1222CA[26], NR_075093.1:n.1222CA[27], NR_075093.1:n.1222CA[28], NR_075093.1:n.1222CA[29], NR_075093.1:n.1222CA[30], NR_075093.1:n.1222CA[31], NR_002810.1:n.1130_1131insCACACACAC, NR_002810.1:n.1131_1149del, NR_002810.1:n.1131_1141del, NR_002810.1:n.1131_1139del, NR_002810.1:n.1131_1137del, NR_002810.1:n.1131_1135del, NR_002810.1:n.1131_1133del, NR_002810.1:n.1131del, NR_002810.1:n.1130dup, NR_002810.1:n.1130_1131insCAC, NR_002810.1:n.1130_1131insCACAC, NR_002810.1:n.1130_1131insCACACAC, NR_002810.1:n.1130_1131insCACACACACAC, NR_002810.1:n.1130_1131insCACACACACACAC, NR_002810.1:n.1130_1131insCACACACACACACAC, NR_002810.1:n.1130_1131insCACACACACACACACAC, NR_002810.1:n.1130_1131insCACACACACACACACACAC, NR_002810.1:n.1130_1131insCACACACACACACACACACAC, NR_002810.1:n.1130_1131insCACACACACACACACACACACAC, NR_002810.1:n.1130_1131insCACACACACACACACACACACACAC, NR_002810.1:n.1130_1131insCACACACACACACACACACACACACAC, NR_002810.1:n.1130_1131insCACACACACACACACACACACACACACAC

Select item 14913794093.

rs1491379409 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACAC [Show Flanks]
Chromosome:: 3:181740313 (GRCh38)
3:181458102 (GRCh37)
Canonical SPDI:: NC_000003.12:181740313:C:CACACAC
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACACAC=0./0 (ALFA)
HGVS:: NC_000003.12:g.181740315AC[3], NC_000003.11:g.181458103AC[3], NR_004053.3:n.1622AC[3], NR_075091.1:n.1637AC[3], NR_075092.1:n.1529AC[3], NR_075089.1:n.1514AC[3], NR_075090.1:n.1228AC[3], NR_075093.1:n.1219AC[3], NR_002810.1:n.1129AC[3]

Select item 14886810224.

rs1488681022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:181740299 (GRCh38)
3:181458087 (GRCh37)
Canonical SPDI:: NC_000003.12:181740298:G:A
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.181740299G>A, NC_000003.11:g.181458087G>A, NR_004053.3:n.1606G>A, NR_075091.1:n.1621G>A, NR_075092.1:n.1513G>A, NR_075089.1:n.1498G>A, NR_075090.1:n.1212G>A, NR_075093.1:n.1203G>A, NR_002810.1:n.1113G>A

Select item 14871708435.

rs1487170843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:181741627 (GRCh38)
3:181459415 (GRCh37)
Canonical SPDI:: NC_000003.12:181741626:C:T
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.181741627C>T, NC_000003.11:g.181459415C>T, NR_004053.3:n.2934C>T, NR_075091.1:n.2949C>T, NR_075092.1:n.2841C>T, NR_075089.1:n.2826C>T, NR_075090.1:n.2540C>T, NR_075093.1:n.2531C>T, NR_002810.1:n.2432C>T

Select item 14871273096.

rs1487127309 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:181610429 (GRCh38)
3:181328218 (GRCh37)
Canonical SPDI:: NC_000003.12:181610429::G
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000112/15 (GnomAD)
G=0.004601/77 (TOMMO)
HGVS:: NC_000003.12:g.181610429_181610430insG, NC_000003.11:g.181328217_181328218insG, NR_004053.3:n.96_97insG, NR_075089.1:n.96_97insG, NR_075090.1:n.96_97insG

Select item 14868936577.

rs1486893657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:181740721 (GRCh38)
3:181458509 (GRCh37)
Canonical SPDI:: NC_000003.12:181740720:A:G
Gene:: SOX2-OT (Varview)
Functional Consequence:: 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_000003.12:g.181740721A>G, NC_000003.11:g.181458509A>G, NR_004053.3:n.2028A>G, NR_075091.1:n.2043A>G, NR_075092.1:n.1935A>G, NR_075089.1:n.1920A>G, NR_075090.1:n.1634A>G, NR_075093.1:n.1625A>G, NR_002810.1:n.1525A>G

Select item 14859980998.

rs1485998099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:181740356 (GRCh38)
3:181458144 (GRCh37)
Canonical SPDI:: NC_000003.12:181740355:C:G,NC_000003.12:181740355:C:T
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.181740356C>G, NC_000003.12:g.181740356C>T, NC_000003.11:g.181458144C>G, NC_000003.11:g.181458144C>T, NR_004053.3:n.1663C>G, NR_004053.3:n.1663C>T, NR_075091.1:n.1678C>G, NR_075091.1:n.1678C>T, NR_075092.1:n.1570C>G, NR_075092.1:n.1570C>T, NR_075089.1:n.1555C>G, NR_075089.1:n.1555C>T, NR_075090.1:n.1269C>G, NR_075090.1:n.1269C>T, NR_075093.1:n.1260C>G, NR_075093.1:n.1260C>T, NR_002810.1:n.1160C>G, NR_002810.1:n.1160C>T

Select item 14858640419.

rs1485864041 [Homo sapiens]

Variant type:: DEL
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 3:181741392 (GRCh38)
3:181459180 (GRCh37)
Canonical SPDI:: NC_000003.12:181741391:CTTT:
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000027/3 (GnomAD)
HGVS:: NC_000003.12:g.181741392_181741395del, NC_000003.11:g.181459180_181459183del, NR_004053.3:n.2699_2702del, NR_075091.1:n.2714_2717del, NR_075092.1:n.2606_2609del, NR_075089.1:n.2591_2594del, NR_075090.1:n.2305_2308del, NR_075093.1:n.2296_2299del, NR_002810.1:n.2197_2200del

Select item 148533541810.

rs1485335418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:181741324 (GRCh38)
3:181459112 (GRCh37)
Canonical SPDI:: NC_000003.12:181741323:A:G
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.181741324A>G, NC_000003.11:g.181459112A>G, NR_004053.3:n.2631A>G, NR_075091.1:n.2646A>G, NR_075092.1:n.2538A>G, NR_075089.1:n.2523A>G, NR_075090.1:n.2237A>G, NR_075093.1:n.2228A>G, NR_002810.1:n.2129A>G

Select item 148499735411.

rs1484997354 has merged into rs1211042043 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAGAAA>-,GAAA,GAAAGAAAGAAA [Show Flanks]
Chromosome:: 3:181610463 (GRCh38)
3:181328251 (GRCh37)
Canonical SPDI:: NC_000003.12:181610451:AAAGAAAGAAAGAAAGAAA:AAAGAAAGAAA,NC_000003.12:181610451:AAAGAAAGAAAGAAAGAAA:AAAGAAAGAAAGAAA,NC_000003.12:181610451:AAAGAAAGAAAGAAAGAAA:AAAGAAAGAAAGAAAGAAAGAAA
Gene:: SOX2-OT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAAGAAAGAAAGAAAGAAA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.181610455GAAA[2], NC_000003.12:g.181610455GAAA[3], NC_000003.12:g.181610455GAAA[5], NC_000003.11:g.181328243GAAA[2], NC_000003.11:g.181328243GAAA[3], NC_000003.11:g.181328243GAAA[5], NR_004053.3:n.122GAAA[2], NR_004053.3:n.122GAAA[3], NR_004053.3:n.122GAAA[5], NR_075089.1:n.122GAAA[2], NR_075089.1:n.122GAAA[3], NR_075089.1:n.122GAAA[5], NR_075090.1:n.122GAAA[2], NR_075090.1:n.122GAAA[3], NR_075090.1:n.122GAAA[5]

Select item 148416367212.

rs1484163672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:181741978 (GRCh38)
3:181459766 (GRCh37)
Canonical SPDI:: NC_000003.12:181741977:A:C
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000026/7 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.181741978A>C, NC_000003.11:g.181459766A>C, NR_004053.3:n.3285A>C, NR_075091.1:n.3300A>C, NR_075092.1:n.3192A>C, NR_075089.1:n.3177A>C, NR_075090.1:n.2891A>C, NR_075093.1:n.2882A>C, NR_002810.1:n.2783A>C

Select item 148401852713.

rs1484018527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:181739693 (GRCh38)
3:181457481 (GRCh37)
Canonical SPDI:: NC_000003.12:181739692:G:A
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.181739693G>A, NC_000003.11:g.181457481G>A, NR_004053.3:n.1000G>A, NR_075091.1:n.1015G>A, NR_075092.1:n.907G>A, NR_075089.1:n.892G>A, NR_075090.1:n.606G>A, NR_075093.1:n.597G>A, NR_002810.1:n.507G>A

Select item 148291862714.

rs1482918627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:181740913 (GRCh38)
3:181458701 (GRCh37)
Canonical SPDI:: NC_000003.12:181740912:T:G
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.181740913T>G, NC_000003.11:g.181458701T>G, NR_004053.3:n.2220T>G, NR_075091.1:n.2235T>G, NR_075092.1:n.2127T>G, NR_075089.1:n.2112T>G, NR_075090.1:n.1826T>G, NR_075093.1:n.1817T>G, NR_002810.1:n.1717T>G

Select item 148232637915.

rs1482326379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:181740132 (GRCh38)
3:181457920 (GRCh37)
Canonical SPDI:: NC_000003.12:181740131:C:G
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.181740132C>G, NC_000003.11:g.181457920C>G, NR_004053.3:n.1439C>G, NR_075091.1:n.1454C>G, NR_075092.1:n.1346C>G, NR_075089.1:n.1331C>G, NR_075090.1:n.1045C>G, NR_075093.1:n.1036C>G, NR_002810.1:n.946C>G

Select item 148077720116.

rs1480777201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:181610533 (GRCh38)
3:181328321 (GRCh37)
Canonical SPDI:: NC_000003.12:181610532:G:A
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.181610533G>A, NC_000003.11:g.181328321G>A, NR_004053.3:n.200G>A, NR_075089.1:n.200G>A, NR_075090.1:n.200G>A

Select item 148007313517.

rs1480073135 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:181741753 (GRCh38)
3:181459541 (GRCh37)
Canonical SPDI:: NC_000003.12:181741752:T:
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.181741753del, NC_000003.11:g.181459541del, NR_004053.3:n.3060del, NR_075091.1:n.3075del, NR_075092.1:n.2967del, NR_075089.1:n.2952del, NR_075090.1:n.2666del, NR_075093.1:n.2657del, NR_002810.1:n.2558del

Select item 147921204018.

rs1479212040 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 147871346819.

rs1478713468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:181742177 (GRCh38)
3:181459965 (GRCh37)
Canonical SPDI:: NC_000003.12:181742176:T:A,NC_000003.12:181742176:T:C
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.181742177T>A, NC_000003.12:g.181742177T>C, NC_000003.11:g.181459965T>A, NC_000003.11:g.181459965T>C, NR_004053.3:n.3484T>A, NR_004053.3:n.3484T>C, NR_075091.1:n.3499T>A, NR_075091.1:n.3499T>C, NR_075092.1:n.3391T>A, NR_075092.1:n.3391T>C, NR_075089.1:n.3376T>A, NR_075089.1:n.3376T>C, NR_075090.1:n.3090T>A, NR_075090.1:n.3090T>C, NR_075093.1:n.3081T>A, NR_075093.1:n.3081T>C, NR_002810.1:n.2982T>A, NR_002810.1:n.2982T>C

Select item 147553389520.

rs1475533895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:181741395 (GRCh38)
3:181459183 (GRCh37)
Canonical SPDI:: NC_000003.12:181741394:T:C
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.181741395T>C, NC_000003.11:g.181459183T>C, NR_004053.3:n.2702T>C, NR_075091.1:n.2717T>C, NR_075092.1:n.2609T>C, NR_075089.1:n.2594T>C, NR_075090.1:n.2308T>C, NR_075093.1:n.2299T>C, NR_002810.1:n.2200T>C

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