SNP Links for Nucleotide (Select 346227202) - SNP

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Links from Nucleotide

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Select item 14898578971.

rs1489857897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:53601318 (GRCh38)
19:54104572 (GRCh37)
Canonical SPDI:: NC_000019.10:53601317:A:C
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53601318A>C, NC_000019.9:g.54104572A>C, XM_011527011.4:c.-50A>C, XM_011527011.3:c.-50A>C, XM_011527011.2:c.-50A>C, XM_011527011.1:c.-50A>C, NR_002938.3:n.368T>G, XM_047438893.1:c.-120A>C

Select item 14897644442.

rs1489764444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53599714 (GRCh38)
19:54102968 (GRCh37)
Canonical SPDI:: NC_000019.10:53599713:C:T
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.53599714C>T, NC_000019.9:g.54102968C>T, NR_002938.3:n.1142G>A

Select item 14836719753.

rs1483671975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53599914 (GRCh38)
19:54103168 (GRCh37)
Canonical SPDI:: NC_000019.10:53599913:G:A
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.53599914G>A, NC_000019.9:g.54103168G>A, NR_002938.3:n.942C>T

Select item 14823831684.

rs1482383168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53599851 (GRCh38)
19:54103105 (GRCh37)
Canonical SPDI:: NC_000019.10:53599850:G:T
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53599851G>T, NC_000019.9:g.54103105G>T, NR_002938.3:n.1005C>A

Select item 14809853235.

rs1480985323 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATCAC [Show Flanks]
Chromosome:: 19:53599888 (GRCh38)
19:54103143 (GRCh37)
Canonical SPDI:: NC_000019.10:53599888:AATCAC:AATCACAATCAC
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: AATCAC=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53599889_53599894dup, NC_000019.9:g.54103143_54103148dup, NR_002938.3:n.962_967dup

Select item 14771300196.

rs1477130019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53599894 (GRCh38)
19:54103148 (GRCh37)
Canonical SPDI:: NC_000019.10:53599893:C:T
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.53599894C>T, NC_000019.9:g.54103148C>T, NR_002938.3:n.962G>A

Select item 14761008167.

rs1476100816 has merged into rs149394410 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAACAAACAAACAA>-,ACAA,ACAAACAA,ACAAACAAACAA,ACAAACAAACAAACAAACAA,ACAAACAAACAAACAAACAAACAA [Show Flanks]
Chromosome:: 19:53600152 (GRCh38)
19:54103406 (GRCh37)
Canonical SPDI:: NC_000019.10:53600134:AACAAACAAACAAACAAACAAACAAACAAACAA:AACAAACAAACAAACAA,NC_000019.10:53600134:AACAAACAAACAAACAAACAAACAAACAAACAA:AACAAACAAACAAACAAACAA,NC_000019.10:53600134:AACAAACAAACAAACAAACAAACAAACAAACAA:AACAAACAAACAAACAAACAAACAA,NC_000019.10:53600134:AACAAACAAACAAACAAACAAACAAACAAACAA:AACAAACAAACAAACAAACAAACAAACAA,NC_000019.10:53600134:AACAAACAAACAAACAAACAAACAAACAAACAA:AACAAACAAACAAACAAACAAACAAACAAACAAACAA,NC_000019.10:53600134:AACAAACAAACAAACAAACAAACAAACAAACAA:AACAAACAAACAAACAAACAAACAAACAAACAAACAAACAA
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACAAACAAACAAACAAACAAACAAACAAACAAACAAACAA=0./0 (ALFA)
-=0.0557/279 (1000Genomes)
AACAAACA=0.4284/1651 (ALSPAC)
HGVS:: NC_000019.10:g.53600136ACAA[4], NC_000019.10:g.53600136ACAA[5], NC_000019.10:g.53600136ACAA[6], NC_000019.10:g.53600136ACAA[7], NC_000019.10:g.53600136ACAA[9], NC_000019.10:g.53600136ACAA[10], NC_000019.9:g.54103390ACAA[4], NC_000019.9:g.54103390ACAA[5], NC_000019.9:g.54103390ACAA[6], NC_000019.9:g.54103390ACAA[7], NC_000019.9:g.54103390ACAA[9], NC_000019.9:g.54103390ACAA[10], NR_002938.3:n.690TGTT[4], NR_002938.3:n.690TGTT[5], NR_002938.3:n.690TGTT[6], NR_002938.3:n.690TGTT[7], NR_002938.3:n.690TGTT[9], NR_002938.3:n.690TGTT[10]

Select item 14752520018.

rs1475252001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:53602074 (GRCh38)
19:54105328 (GRCh37)
Canonical SPDI:: NC_000019.10:53602073:A:C,NC_000019.10:53602073:A:G
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_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_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.53602074A>C, NC_000019.10:g.53602074A>G, NC_000019.9:g.54105328A>C, NC_000019.9:g.54105328A>G, NR_002938.3:n.236T>G, NR_002938.3:n.236T>C

Select item 14711692479.

rs1471169247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53602149 (GRCh38)
19:54105403 (GRCh37)
Canonical SPDI:: NC_000019.10:53602148:T:C
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53602149T>C, NC_000019.9:g.54105403T>C, NR_002938.3:n.161A>G

Select item 146595829710.

rs1465958297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53602053 (GRCh38)
19:54105307 (GRCh37)
Canonical SPDI:: NC_000019.10:53602052:C:T
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53602053C>T, NC_000019.9:g.54105307C>T, NR_002938.3:n.257G>A

Select item 146549804411.

rs1465498044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53600408 (GRCh38)
19:54103662 (GRCh37)
Canonical SPDI:: NC_000019.10:53600407:T:C
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000045/12 (TOPMED)
C=0.000066/9 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53600408T>C, NC_000019.9:g.54103662T>C, NR_002938.3:n.448A>G

Select item 146334481812.

rs1463344818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:53599910 (GRCh38)
19:54103164 (GRCh37)
Canonical SPDI:: NC_000019.10:53599909:G:A,NC_000019.10:53599909:G:C
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000098/26 (TOPMED)
A=0.000156/1 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53599910G>A, NC_000019.10:g.53599910G>C, NC_000019.9:g.54103164G>A, NC_000019.9:g.54103164G>C, NR_002938.3:n.946C>T, NR_002938.3:n.946C>G

Select item 146287650913.

rs1462876509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53599665 (GRCh38)
19:54102919 (GRCh37)
Canonical SPDI:: NC_000019.10:53599664:T:C
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000049/13 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.53599665T>C, NC_000019.9:g.54102919T>C, NR_002938.3:n.1191A>G

Select item 146108872614.

rs1461088726 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 19:53600329 (GRCh38)
19:54103583 (GRCh37)
Canonical SPDI:: NC_000019.10:53600328:AA:A
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53600330del, NC_000019.9:g.54103584del, NR_002938.3:n.527del

Select item 145981046515.

rs1459810465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53601289 (GRCh38)
19:54104543 (GRCh37)
Canonical SPDI:: NC_000019.10:53601288:G:A
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53601289G>A, NC_000019.9:g.54104543G>A, XM_011527011.4:c.-79G>A, XM_011527011.3:c.-79G>A, XM_011527011.2:c.-79G>A, XM_011527011.1:c.-79G>A, NR_002938.3:n.397C>T, XM_047438893.1:c.-149G>A

Select item 145917657116.

rs1459176571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:53600023 (GRCh38)
19:54103277 (GRCh37)
Canonical SPDI:: NC_000019.10:53600022:G:C
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53600023G>C, NC_000019.9:g.54103277G>C, NR_002938.3:n.833C>G

Select item 145635968017.

rs1456359680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53599682 (GRCh38)
19:54102936 (GRCh37)
Canonical SPDI:: NC_000019.10:53599681:T:G
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53599682T>G, NC_000019.9:g.54102936T>G, NR_002938.3:n.1174A>C

Select item 145205808318.

rs1452058083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:53600196 (GRCh38)
19:54103450 (GRCh37)
Canonical SPDI:: NC_000019.10:53600195:C:A
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53600196C>A, NC_000019.9:g.54103450C>A, NR_002938.3:n.660G>T

Select item 144988603919.

rs1449886039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53600338 (GRCh38)
19:54103592 (GRCh37)
Canonical SPDI:: NC_000019.10:53600337:G:A
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53600338G>A, NC_000019.9:g.54103592G>A, NR_002938.3:n.518C>T

Select item 144976021120.

rs1449760211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53600365 (GRCh38)
19:54103619 (GRCh37)
Canonical SPDI:: NC_000019.10:53600364:C:T
Gene:: LOC284379 (Varview), DPRX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53600365C>T, NC_000019.9:g.54103619C>T, NR_002938.3:n.491G>A