SNP Links for Nucleotide (Select 1015576913) - SNP

Links from Nucleotide

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Select item 14915567861.

rs1491556786 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: 4:173530417 (GRCh38)
4:174451569 (GRCh37)
Canonical SPDI:: NC_000004.12:173530417::A,NC_000004.12:173530417::C,NC_000004.12:173530417::T
Gene:: HAND2 (Varview), HAND2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.173530417_173530418insA, NC_000004.12:g.173530417_173530418insC, NC_000004.12:g.173530417_173530418insT, NC_000004.11:g.174451568_174451569insA, NC_000004.11:g.174451568_174451569insC, NC_000004.11:g.174451568_174451569insT, NG_046954.1:g.4810_4811insT, NG_046954.1:g.4810_4811insG, NG_046954.1:g.4810_4811insA, NR_136201.1:n.47_48insA, NR_136201.1:n.47_48insC, NR_136201.1:n.47_48insT, NR_136200.1:n.47_48insA, NR_136200.1:n.47_48insC, NR_136200.1:n.47_48insT, NR_136193.1:n.47_48insA, NR_136193.1:n.47_48insC, NR_136193.1:n.47_48insT, NR_136199.1:n.47_48insA, NR_136199.1:n.47_48insC, NR_136199.1:n.47_48insT, NR_136194.1:n.47_48insA, NR_136194.1:n.47_48insC, NR_136194.1:n.47_48insT, NR_136192.1:n.47_48insA, NR_136192.1:n.47_48insC, NR_136192.1:n.47_48insT, NR_136198.1:n.47_48insA, NR_136198.1:n.47_48insC, NR_136198.1:n.47_48insT, NR_136195.1:n.47_48insA, NR_136195.1:n.47_48insC, NR_136195.1:n.47_48insT, NR_136196.1:n.47_48insA, NR_136196.1:n.47_48insC, NR_136196.1:n.47_48insT

Select item 14914058492.

rs1491405849 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 4:173530414 (GRCh38)
4:174451566 (GRCh37)
Canonical SPDI:: NC_000004.12:173530414::A,NC_000004.12:173530414::C
Gene:: HAND2 (Varview), HAND2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.173530414_173530415insA, NC_000004.12:g.173530414_173530415insC, NC_000004.11:g.174451565_174451566insA, NC_000004.11:g.174451565_174451566insC, NG_046954.1:g.4813_4814insT, NG_046954.1:g.4813_4814insG, NR_136201.1:n.44_45insA, NR_136201.1:n.44_45insC, NR_136200.1:n.44_45insA, NR_136200.1:n.44_45insC, NR_136193.1:n.44_45insA, NR_136193.1:n.44_45insC, NR_136199.1:n.44_45insA, NR_136199.1:n.44_45insC, NR_136194.1:n.44_45insA, NR_136194.1:n.44_45insC, NR_136192.1:n.44_45insA, NR_136192.1:n.44_45insC, NR_136198.1:n.44_45insA, NR_136198.1:n.44_45insC, NR_136195.1:n.44_45insA, NR_136195.1:n.44_45insC, NR_136196.1:n.44_45insA, NR_136196.1:n.44_45insC

Select item 14910740143.

rs1491074014 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:173530424 (GRCh38)
4:174451576 (GRCh37)
Canonical SPDI:: NC_000004.12:173530424::T
Gene:: HAND2 (Varview), HAND2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000004.12:g.173530424_173530425insT, NC_000004.11:g.174451575_174451576insT, NG_046954.1:g.4803_4804insA, NR_136201.1:n.54_55insT, NR_136200.1:n.54_55insT, NR_136193.1:n.54_55insT, NR_136199.1:n.54_55insT, NR_136194.1:n.54_55insT, NR_136192.1:n.54_55insT, NR_136198.1:n.54_55insT, NR_136195.1:n.54_55insT, NR_136196.1:n.54_55insT

Select item 14897061964.

rs1489706196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:173585348 (GRCh38)
4:174506499 (GRCh37)
Canonical SPDI:: NC_000004.12:173585347:G:T
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.173585348G>T, NC_000004.11:g.174506499G>T, NR_136195.1:n.1291G>T

Select item 14894821375.

rs1489482137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:173585372 (GRCh38)
4:174506523 (GRCh37)
Canonical SPDI:: NC_000004.12:173585371:C:T
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000004.12:g.173585372C>T, NC_000004.11:g.174506523C>T, NR_136195.1:n.1315C>T

Select item 14891210496.

rs1489121049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:173582844 (GRCh38)
4:174503995 (GRCh37)
Canonical SPDI:: NC_000004.12:173582843:G:A
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.173582844G>A, NC_000004.11:g.174503995G>A, NR_136195.1:n.544G>A, NR_136196.1:n.526G>A

Select item 14866850877.

rs1486685087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:173531072 (GRCh38)
4:174452223 (GRCh37)
Canonical SPDI:: NC_000004.12:173531071:C:A
Gene:: HAND2 (Varview), HAND2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.173531072C>A, NC_000004.11:g.174452223C>A, NG_046954.1:g.4156G>T, NR_003679.2:n.281C>A, NR_003679.1:n.281C>A, NR_136201.1:n.442C>A, NR_136200.1:n.275C>A, NR_136193.1:n.275C>A, NR_136199.1:n.275C>A, NR_136194.1:n.442C>A, NR_136197.1:n.346C>A, NR_136192.1:n.275C>A, NR_136195.1:n.275C>A, NR_136196.1:n.275C>A

Select item 14857928688.

rs1485792868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:173582875 (GRCh38)
4:174504026 (GRCh37)
Canonical SPDI:: NC_000004.12:173582874:C:T
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.173582875C>T, NC_000004.11:g.174504026C>T, NR_136195.1:n.575C>T, NR_136196.1:n.557C>T

Select item 14839175759.

rs1483917575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:173531003 (GRCh38)
4:174452154 (GRCh37)
Canonical SPDI:: NC_000004.12:173531002:A:G
Gene:: HAND2 (Varview), HAND2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.173531003A>G, NC_000004.11:g.174452154A>G, NG_046954.1:g.4225T>C, NR_003679.2:n.212A>G, NR_003679.1:n.212A>G, NR_136201.1:n.373A>G, NR_136200.1:n.206A>G, NR_136193.1:n.206A>G, NR_136199.1:n.206A>G, NR_136194.1:n.373A>G, NR_136197.1:n.277A>G, NR_136192.1:n.206A>G, NR_136195.1:n.206A>G, NR_136196.1:n.206A>G

Select item 147521717110.

rs1475217171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:173582758 (GRCh38)
4:174503909 (GRCh37)
Canonical SPDI:: NC_000004.12:173582757:A:G
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_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_000004.12:g.173582758A>G, NC_000004.11:g.174503909A>G, NR_136195.1:n.458A>G, NR_136196.1:n.440A>G

Select item 146683603211.

rs1466836032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:173585552 (GRCh38)
4:174506703 (GRCh37)
Canonical SPDI:: NC_000004.12:173585551:T:C
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.173585552T>C, NC_000004.11:g.174506703T>C, NR_136195.1:n.1495T>C

Select item 146657104712.

rs1466571047 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:173585221 (GRCh38)
4:174506373 (GRCh37)
Canonical SPDI:: NC_000004.12:173585221:TTTTTT:TTTTTTT
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.173585227dup, NC_000004.11:g.174506378dup, NR_136195.1:n.1170dup

Select item 146574343613.

rs1465743436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:173530470 (GRCh38)
4:174451621 (GRCh37)
Canonical SPDI:: NC_000004.12:173530469:T:G
Gene:: HAND2 (Varview), HAND2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000142/4 (TOMMO)
HGVS:: NC_000004.12:g.173530470T>G, NC_000004.11:g.174451621T>G, NG_046954.1:g.4758A>C, NR_003679.2:n.13T>G, NR_003679.1:n.13T>G, NR_136201.1:n.100T>G, NR_136200.1:n.100T>G, NR_136193.1:n.100T>G, NR_136199.1:n.100T>G, NR_136194.1:n.100T>G, NR_136192.1:n.100T>G, NR_136198.1:n.100T>G, NR_136195.1:n.100T>G, NR_136196.1:n.100T>G

Select item 145775838114.

rs1457758381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:173585610 (GRCh38)
4:174506761 (GRCh37)
Canonical SPDI:: NC_000004.12:173585609:C:T
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_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_000004.12:g.173585610C>T, NC_000004.11:g.174506761C>T, NR_136195.1:n.1553C>T

Select item 145651636715.

rs1456516367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:173530437 (GRCh38)
4:174451588 (GRCh37)
Canonical SPDI:: NC_000004.12:173530436:A:G,NC_000004.12:173530436:A:T
Gene:: HAND2 (Varview), HAND2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.173530437A>G, NC_000004.12:g.173530437A>T, NC_000004.11:g.174451588A>G, NC_000004.11:g.174451588A>T, NG_046954.1:g.4791T>C, NG_046954.1:g.4791T>A, NR_136201.1:n.67A>G, NR_136201.1:n.67A>T, NR_136200.1:n.67A>G, NR_136200.1:n.67A>T, NR_136193.1:n.67A>G, NR_136193.1:n.67A>T, NR_136199.1:n.67A>G, NR_136199.1:n.67A>T, NR_136194.1:n.67A>G, NR_136194.1:n.67A>T, NR_136192.1:n.67A>G, NR_136192.1:n.67A>T, NR_136198.1:n.67A>G, NR_136198.1:n.67A>T, NR_136195.1:n.67A>G, NR_136195.1:n.67A>T, NR_136196.1:n.67A>G, NR_136196.1:n.67A>T

Select item 145563642316.

rs1455636423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:173531026 (GRCh38)
4:174452177 (GRCh37)
Canonical SPDI:: NC_000004.12:173531025:G:T
Gene:: HAND2 (Varview), HAND2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_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_000004.12:g.173531026G>T, NC_000004.11:g.174452177G>T, NG_046954.1:g.4202C>A, NR_003679.2:n.235G>T, NR_003679.1:n.235G>T, NR_136201.1:n.396G>T, NR_136200.1:n.229G>T, NR_136193.1:n.229G>T, NR_136199.1:n.229G>T, NR_136194.1:n.396G>T, NR_136197.1:n.300G>T, NR_136192.1:n.229G>T, NR_136195.1:n.229G>T, NR_136196.1:n.229G>T

Select item 145524176017.

rs1455241760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:173536875 (GRCh38)
4:174458026 (GRCh37)
Canonical SPDI:: NC_000004.12:173536874:T:C
Gene:: HAND2-AS1 (Varview), LOC124900816 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.173536875T>C, NC_000004.11:g.174458026T>C, NR_003679.2:n.315T>C, NR_003679.1:n.315T>C, NR_136201.1:n.476T>C, NR_136200.1:n.309T>C, NR_136193.1:n.306T>C, NR_136199.1:n.519T>C, NR_136194.1:n.476T>C, NR_136197.1:n.380T>C, NR_136192.1:n.309T>C, NR_136198.1:n.197T>C, XR_007058375.1:n.790A>G, NR_136195.1:n.309T>C

Select item 145309449018.

rs1453094490 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 4:173584729 (GRCh38)
4:174505881 (GRCh37)
Canonical SPDI:: NC_000004.12:173584729:GTG:GTGTG
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGTG=0./0 (ALFA)
GT=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.173584731_173584732dup, NC_000004.11:g.174505882_174505883dup, NR_136195.1:n.674_675dup

Select item 144888745919.

rs1448887459 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 4:173584706 (GRCh38)
4:174505857 (GRCh37)
Canonical SPDI:: NC_000004.12:173584704:CCC:C
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.173584706_173584707del, NC_000004.11:g.174505857_174505858del, NR_136195.1:n.649_650del

Select item 144345886220.

rs1443458862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:173585478 (GRCh38)
4:174506629 (GRCh37)
Canonical SPDI:: NC_000004.12:173585477:C:T
Gene:: HAND2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.173585478C>T, NC_000004.11:g.174506629C>T, NR_136195.1:n.1421C>T

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