SNP Links for Gene (Select 7681) - SNP

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Items: 1 to 20 of 1448

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Select item 14905042361.

rs1490504236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:23566860 (GRCh38)
15:23812007 (GRCh37)
Canonical SPDI:: NC_000015.10:23566859:T:C
Gene:: MKRN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.23566860T>C, NC_000015.9:g.23812007T>C, NG_012875.3:g.6554T>C, NM_005664.4:c.1078T>C, NM_005664.3:c.1078T>C, NW_021160017.1:g.4514332T>C, NP_005655.1:p.Ser360Pro

Select item 14900140972.

rs1490014097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:23567169 (GRCh38)
15:23812316 (GRCh37)
Canonical SPDI:: NC_000015.10:23567168:A:G
Gene:: MKRN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.23567169A>G, NC_000015.9:g.23812316A>G, NG_012875.3:g.6863A>G, NM_005664.4:c.1387A>G, NM_005664.3:c.1387A>G, NW_021160017.1:g.4514641A>G, NP_005655.1:p.Lys463Glu

Select item 14899670413.

rs1489967041 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:23566157 (GRCh38)
15:23811305 (GRCh37)
Canonical SPDI:: NC_000015.10:23566157:A:AA
Gene:: MKRN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.23566158dup, NC_000015.9:g.23811305dup, NG_012875.3:g.5852dup, NM_005664.4:c.376dup, NM_005664.3:c.376dup, NW_021160017.1:g.4513630dup, NP_005655.1:p.Met126fs

Select item 14889171604.

rs1488917160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:23568406 (GRCh38)
15:23813553 (GRCh37)
Canonical SPDI:: NC_000015.10:23568405:G:A
Gene:: MKRN3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.23568406G>A, NC_000015.9:g.23813553G>A, NG_012875.3:g.8100G>A, NW_021160017.1:g.4515878G>A

Select item 14876861195.

rs1487686119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 15:23565769 (GRCh38)
15:23810916 (GRCh37)
Canonical SPDI:: NC_000015.10:23565768:G:A,NC_000015.10:23565768:G:C,NC_000015.10:23565768:G:T
Gene:: MKRN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.23565769G>A, NC_000015.10:g.23565769G>C, NC_000015.10:g.23565769G>T, NC_000015.9:g.23810916G>A, NC_000015.9:g.23810916G>C, NC_000015.9:g.23810916G>T, NG_012875.3:g.5463G>A, NG_012875.3:g.5463G>C, NG_012875.3:g.5463G>T, NM_005664.4:c.-14G>A, NM_005664.4:c.-14G>C, NM_005664.4:c.-14G>T, NM_005664.3:c.-14G>A, NM_005664.3:c.-14G>C, NM_005664.3:c.-14G>T, NW_021160017.1:g.4513241G>A, NW_021160017.1:g.4513241G>C, NW_021160017.1:g.4513241G>T

Select item 14875209736.

rs1487520973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:23565972 (GRCh38)
15:23811119 (GRCh37)
Canonical SPDI:: NC_000015.10:23565971:C:T
Gene:: MKRN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.23565972C>T, NC_000015.9:g.23811119C>T, NG_012875.3:g.5666C>T, NM_005664.4:c.190C>T, NM_005664.3:c.190C>T, NW_021160017.1:g.4513444C>T, NP_005655.1:p.Pro64Ser

Select item 14872915807.

rs1487291580 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 15:23564204 (GRCh38)
15:23809351 (GRCh37)
Canonical SPDI:: NC_000015.10:23564202:TAAT:T
Gene:: MKRN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.23564204_23564206del, NC_000015.9:g.23809351_23809353del, NG_012875.3:g.3898_3900del, NW_021160017.1:g.4511676_4511678del

Select item 14870981798.

rs1487098179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:23565838 (GRCh38)
15:23810985 (GRCh37)
Canonical SPDI:: NC_000015.10:23565837:G:A
Gene:: MKRN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.23565838G>A, NC_000015.9:g.23810985G>A, NG_012875.3:g.5532G>A, NM_005664.4:c.56G>A, NM_005664.3:c.56G>A, NW_021160017.1:g.4513310G>A, NP_005655.1:p.Gly19Asp

Select item 14864014199.

rs1486401419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:23566600 (GRCh38)
15:23811747 (GRCh37)
Canonical SPDI:: NC_000015.10:23566599:C:A,NC_000015.10:23566599:C:T
Gene:: MKRN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.23566600C>A, NC_000015.10:g.23566600C>T, NC_000015.9:g.23811747C>A, NC_000015.9:g.23811747C>T, NG_012875.3:g.6294C>A, NG_012875.3:g.6294C>T, NM_005664.4:c.818C>A, NM_005664.4:c.818C>T, NM_005664.3:c.818C>A, NM_005664.3:c.818C>T, NW_021160017.1:g.4514072C>A, NW_021160017.1:g.4514072C>T, NP_005655.1:p.Thr273Asn, NP_005655.1:p.Thr273Ile

Select item 148625893410.

rs1486258934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:23564835 (GRCh38)
15:23809982 (GRCh37)
Canonical SPDI:: NC_000015.10:23564834:A:G
Gene:: MKRN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.23564835A>G, NC_000015.9:g.23809982A>G, NG_012875.3:g.4529A>G, NW_021160017.1:g.4512307A>G

Select item 148539685211.

rs1485396852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:23564451 (GRCh38)
15:23809598 (GRCh37)
Canonical SPDI:: NC_000015.10:23564450:A:G
Gene:: MKRN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.23564451A>G, NC_000015.9:g.23809598A>G, NG_012875.3:g.4145A>G, NW_021160017.1:g.4511923A>G

Select item 148505161512.

rs1485051615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:23565868 (GRCh38)
15:23811015 (GRCh37)
Canonical SPDI:: NC_000015.10:23565867:G:T
Gene:: MKRN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.23565868G>T, NC_000015.9:g.23811015G>T, NG_012875.3:g.5562G>T, NM_005664.4:c.86G>T, NM_005664.3:c.86G>T, NW_021160017.1:g.4513340G>T, NP_005655.1:p.Gly29Val

Select item 148500008813.

rs1485000088 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:23566577 (GRCh38)
15:23811724 (GRCh37)
Canonical SPDI:: NC_000015.10:23566574:ATAT:AT
Gene:: MKRN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.23566575AT[1], NC_000015.9:g.23811722AT[1], NG_012875.3:g.6269AT[1], NM_005664.4:c.795_796del, NM_005664.3:c.795_796del, NW_021160017.1:g.4514047AT[1], NP_005655.1:p.Ile265fs

Select item 148289419314.

rs1482894193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:23567895 (GRCh38)
15:23813042 (GRCh37)
Canonical SPDI:: NC_000015.10:23567894:A:G
Gene:: MKRN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.23567895A>G, NC_000015.9:g.23813042A>G, NG_012875.3:g.7589A>G, NM_005664.4:c.*589A>G, NM_005664.3:c.*589A>G, NW_021160017.1:g.4515367A>G

Select item 148160750315.

rs1481607503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:23566357 (GRCh38)
15:23811504 (GRCh37)
Canonical SPDI:: NC_000015.10:23566356:C:T
Gene:: MKRN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.23566357C>T, NC_000015.9:g.23811504C>T, NG_012875.3:g.6051C>T, NM_005664.4:c.575C>T, NM_005664.3:c.575C>T, NW_021160017.1:g.4513829C>T, NP_005655.1:p.Ala192Val

Select item 148157025116.

rs1481570251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:23566787 (GRCh38)
15:23811934 (GRCh37)
Canonical SPDI:: NC_000015.10:23566786:C:T
Gene:: MKRN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.23566787C>T, NC_000015.9:g.23811934C>T, NG_012875.3:g.6481C>T, NM_005664.4:c.1005C>T, NM_005664.3:c.1005C>T, NW_021160017.1:g.4514259C>T

Select item 148118137417.

rs1481181374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:23567178 (GRCh38)
15:23812325 (GRCh37)
Canonical SPDI:: NC_000015.10:23567177:G:T
Gene:: MKRN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.23567178G>T, NC_000015.9:g.23812325G>T, NG_012875.3:g.6872G>T, NM_005664.4:c.1396G>T, NM_005664.3:c.1396G>T, NW_021160017.1:g.4514650G>T, NP_005655.1:p.Val466Phe

Select item 148117767418.

rs1481177674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:23567810 (GRCh38)
15:23812957 (GRCh37)
Canonical SPDI:: NC_000015.10:23567809:T:C,NC_000015.10:23567809:T:G
Gene:: MKRN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.23567810T>C, NC_000015.10:g.23567810T>G, NC_000015.9:g.23812957T>C, NC_000015.9:g.23812957T>G, NG_012875.3:g.7504T>C, NG_012875.3:g.7504T>G, NM_005664.4:c.*504T>C, NM_005664.4:c.*504T>G, NM_005664.3:c.*504T>C, NM_005664.3:c.*504T>G, NW_021160017.1:g.4515282T>C, NW_021160017.1:g.4515282T>G

Select item 148064959919.

rs1480649599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:23567518 (GRCh38)
15:23812665 (GRCh37)
Canonical SPDI:: NC_000015.10:23567517:T:C
Gene:: MKRN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.23567518T>C, NC_000015.9:g.23812665T>C, NG_012875.3:g.7212T>C, NM_005664.4:c.*212T>C, NM_005664.3:c.*212T>C, NW_021160017.1:g.4514990T>C

Select item 148060406220.

rs1480604062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:23564867 (GRCh38)
15:23810014 (GRCh37)
Canonical SPDI:: NC_000015.10:23564866:G:A,NC_000015.10:23564866:G:C
Gene:: MKRN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.23564867G>A, NC_000015.10:g.23564867G>C, NC_000015.9:g.23810014G>A, NC_000015.9:g.23810014G>C, NG_012875.3:g.4561G>A, NG_012875.3:g.4561G>C, NW_021160017.1:g.4512339G>A, NW_021160017.1:g.4512339G>C

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