SNP Links for Gene (Select 406910) - SNP

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Select item 14896264151.

rs1489626415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51692921 (GRCh38)
19:52196174 (GRCh37)
Canonical SPDI:: NC_000019.10:51692920:T:C
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_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_000019.10:g.51692921T>C, NC_000019.9:g.52196174T>C, NR_108100.1:n.536A>G

Select item 14895551812.

rs1489555181 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:51691989 (GRCh38)
19:52195242 (GRCh37)
Canonical SPDI:: NC_000019.10:51691988:GGG:GG
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51691991del, NC_000019.9:g.52195244del

Select item 14884390313.

rs1488439031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51693330 (GRCh38)
19:52196583 (GRCh37)
Canonical SPDI:: NC_000019.10:51693329:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,intron_variant
HGVS:: NC_000019.10:g.51693330G>A, NC_000019.9:g.52196583G>A, XM_017026299.3:c.-197G>A, XM_017026299.2:c.-197G>A, XM_017026299.1:c.-197G>A, NR_024330.2:n.1G>A, NM_001316972.2:c.-197G>A, NR_108100.1:n.127C>T, XR_007066593.1:n.1G>A, NR_029693.1:n.77G>A

Select item 14876007554.

rs1487600755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:51693232 (GRCh38)
19:52196485 (GRCh37)
Canonical SPDI:: NC_000019.10:51693231:A:G,NC_000019.10:51693231:A:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51693232A>G, NC_000019.10:g.51693232A>T, NC_000019.9:g.52196485A>G, NC_000019.9:g.52196485A>T, NR_108100.1:n.225T>C, NR_108100.1:n.225T>A

Select item 14865953965.

rs1486595396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51692398 (GRCh38)
19:52195651 (GRCh37)
Canonical SPDI:: NC_000019.10:51692397:C:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.51692398C>T, NC_000019.9:g.52195651C>T

Select item 14858470586.

rs1485847058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51691303 (GRCh38)
19:52194556 (GRCh37)
Canonical SPDI:: NC_000019.10:51691302:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.51691303G>A, NC_000019.9:g.52194556G>A

Select item 14836915147.

rs1483691514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51691973 (GRCh38)
19:52195226 (GRCh37)
Canonical SPDI:: NC_000019.10:51691972:C:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_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_000019.10:g.51691973C>T, NC_000019.9:g.52195226C>T

Select item 14831791418.

rs1483179141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51691888 (GRCh38)
19:52195141 (GRCh37)
Canonical SPDI:: NC_000019.10:51691887:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000019.10:g.51691888G>A, NC_000019.9:g.52195141G>A

Select item 14831119329.

rs1483111932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51691963 (GRCh38)
19:52195216 (GRCh37)
Canonical SPDI:: NC_000019.10:51691962:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.51691963G>A, NC_000019.9:g.52195216G>A

Select item 148168892810.

rs1481688928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51691277 (GRCh38)
19:52194530 (GRCh37)
Canonical SPDI:: NC_000019.10:51691276:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.51691277G>A, NC_000019.9:g.52194530G>A

Select item 148072172011.

rs1480721720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51692636 (GRCh38)
19:52195889 (GRCh37)
Canonical SPDI:: NC_000019.10:51692635:T:C
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.51692636T>C, NC_000019.9:g.52195889T>C, NR_108100.1:n.821A>G, NR_029843.1:n.25T>C

Select item 147931664412.

rs1479316644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:51692202 (GRCh38)
19:52195455 (GRCh37)
Canonical SPDI:: NC_000019.10:51692201:G:A,NC_000019.10:51692201:G:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.51692202G>A, NC_000019.10:g.51692202G>T, NC_000019.9:g.52195455G>A, NC_000019.9:g.52195455G>T

Select item 147678971913.

rs1476789719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51692122 (GRCh38)
19:52195375 (GRCh37)
Canonical SPDI:: NC_000019.10:51692121:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000142/2 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.51692122G>A, NC_000019.9:g.52195375G>A

Select item 147659541214.

rs1476595412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:51691947 (GRCh38)
19:52195200 (GRCh37)
Canonical SPDI:: NC_000019.10:51691946:C:G,NC_000019.10:51691946:C:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.51691947C>G, NC_000019.10:g.51691947C>T, NC_000019.9:g.52195200C>G, NC_000019.9:g.52195200C>T

Select item 147611248215.

rs1476112482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:51693359 (GRCh38)
19:52196612 (GRCh37)
Canonical SPDI:: NC_000019.10:51693358:T:G
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,5_prime_UTR_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_000019.10:g.51693359T>G, NC_000019.9:g.52196612T>G, XM_017026299.3:c.-168T>G, XM_017026299.2:c.-168T>G, XM_017026299.1:c.-168T>G, NR_024330.2:n.30T>G, NR_024330.1:n.20T>G, NM_001316972.2:c.-168T>G, NM_001316972.1:c.-168T>G, NR_108100.1:n.98A>C, NM_207324.1:c.-168T>G, XR_007066593.1:n.30T>G

Select item 147513892216.

rs1475138922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51693227 (GRCh38)
19:52196480 (GRCh37)
Canonical SPDI:: NC_000019.10:51693226:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_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_000019.10:g.51693227G>A, NC_000019.9:g.52196480G>A, NR_108100.1:n.230C>T

Select item 147507376717.

rs1475073767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51693701 (GRCh38)
19:52196954 (GRCh37)
Canonical SPDI:: NC_000019.10:51693700:T:C
Gene:: SPACA6 (Varview), MIR125A (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51693701T>C, NC_000019.9:g.52196954T>C, XM_017026299.3:c.175T>C, XM_017026299.2:c.175T>C, XM_017026299.1:c.175T>C, NR_024330.2:n.372T>C, NR_024330.1:n.362T>C, NM_001316972.2:c.175T>C, NM_001316972.1:c.175T>C, NM_207324.1:c.175T>C, XR_007066593.1:n.372T>C, XP_016881788.1:p.Phe59Leu, NP_001303901.1:p.Phe59Leu

Select item 147481857118.

rs1474818571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:51692627 (GRCh38)
19:52195880 (GRCh37)
Canonical SPDI:: NC_000019.10:51692626:A:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51692627A>T, NC_000019.9:g.52195880A>T, NR_029843.1:n.16A>T

Select item 147417520119.

rs1474175201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51692544 (GRCh38)
19:52195797 (GRCh37)
Canonical SPDI:: NC_000019.10:51692543:G:A
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51692544G>A, NC_000019.9:g.52195797G>A

Select item 147327695320.

rs1473276953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51691457 (GRCh38)
19:52194710 (GRCh37)
Canonical SPDI:: NC_000019.10:51691456:C:T
Gene:: SPACA6 (Varview), MIRLET7E (Varview), MIR125A (Varview), MIR99B (Varview), SPACA6-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.51691457C>T, NC_000019.9:g.52194710C>T

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