SNP Links for Gene (Select 79412) - SNP

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Select item 14904898691.

rs1490489869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2968403 (GRCh38)
16:3018404 (GRCh37)
Canonical SPDI:: NC_000016.10:2968402:G:A
Gene:: KREMEN2 (Varview), PAQR4 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,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_000016.10:g.2968403G>A, NC_000016.9:g.3018404G>A

Select item 14898916702.

rs1489891670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:2967294 (GRCh38)
16:3017295 (GRCh37)
Canonical SPDI:: NC_000016.10:2967293:A:C
Gene:: KREMEN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000319/9 (TOMMO)
C=0.0138/39 (KOREAN)
HGVS:: NC_000016.10:g.2967294A>C, NC_000016.9:g.3017295A>C

Select item 14894960693.

rs1489496069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2967929 (GRCh38)
16:3017930 (GRCh37)
Canonical SPDI:: NC_000016.10:2967928:G:A
Gene:: KREMEN2 (Varview), PAQR4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.2967929G>A, NC_000016.9:g.3017930G>A, NM_024507.4:c.1219G>A, NM_024507.3:c.1219G>A, NM_172229.3:c.1298G>A, NM_172229.2:c.1298G>A, NM_001253726.2:c.1181G>A, NM_001253726.1:c.1181G>A, NM_001253725.2:c.1102G>A, NM_001253725.1:c.1102G>A, NM_145348.1:c.*383G>A, NM_145347.1:c.*228G>A, NP_078783.1:p.Gly407Arg, NP_757384.1:p.Gly433Glu, NP_001240655.1:p.Gly394Glu, NP_001240654.1:p.Gly368Arg

Select item 14892712324.

rs1489271232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:2964810 (GRCh38)
16:3014811 (GRCh37)
Canonical SPDI:: NC_000016.10:2964809:A:T
Gene:: KREMEN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000016.10:g.2964810A>T, NC_000016.9:g.3014811A>T

Select item 14890944905.

rs1489094490 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:2967342 (GRCh38)
16:3017343 (GRCh37)
Canonical SPDI:: NC_000016.10:2967341:CCC:CC
Gene:: KREMEN2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000016.10:g.2967344del, NC_000016.9:g.3017345del, NM_024507.4:c.998del, NM_024507.3:c.998del, NM_172229.3:c.998del, NM_172229.2:c.998del, NM_001253726.2:c.881del, NM_001253726.1:c.881del, NM_001253725.2:c.881del, NM_001253725.1:c.881del, NM_145348.1:c.998del, NM_145347.1:c.998del, NP_078783.1:p.Pro333fs, NP_757384.1:p.Pro333fs, NP_001240655.1:p.Pro294fs, NP_001240654.1:p.Pro294fs

Select item 14885228206.

rs1488522820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2967150 (GRCh38)
16:3017151 (GRCh37)
Canonical SPDI:: NC_000016.10:2967149:C:T
Gene:: KREMEN2 (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_000016.10:g.2967150C>T, NC_000016.9:g.3017151C>T, NM_024507.4:c.881C>T, NM_024507.3:c.881C>T, NM_172229.3:c.881C>T, NM_172229.2:c.881C>T, NM_001253726.2:c.764C>T, NM_001253726.1:c.764C>T, NM_001253725.2:c.764C>T, NM_001253725.1:c.764C>T, NM_145348.1:c.881C>T, NM_145347.1:c.881C>T, NP_078783.1:p.Ser294Phe, NP_757384.1:p.Ser294Phe, NP_001240655.1:p.Ser255Phe, NP_001240654.1:p.Ser255Phe

Select item 14880733307.

rs1488073330 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:2963547 (GRCh38)
16:3013549 (GRCh37)
Canonical SPDI:: NC_000016.10:2963547:GGGGG:GGGGGG
Gene:: KREMEN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.2963552dup, NC_000016.9:g.3013553dup

Select item 14877772598.

rs1487777259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:2964303 (GRCh38)
16:3014304 (GRCh37)
Canonical SPDI:: NC_000016.10:2964302:G:T
Gene:: KREMEN2 (Varview)
Functional Consequence:: 5_prime_UTR_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_000016.10:g.2964303G>T, NC_000016.9:g.3014304G>T, NM_024507.4:c.-218G>T, NM_024507.3:c.-218G>T, NM_172229.3:c.-218G>T, NM_172229.2:c.-218G>T, NM_001253726.2:c.-218G>T, NM_001253726.1:c.-218G>T, NM_001253725.2:c.-218G>T, NM_001253725.1:c.-218G>T, NM_145348.1:c.-218G>T, NM_145347.1:c.-218G>T

Select item 14876775659.

rs1487677565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2968808 (GRCh38)
16:3018809 (GRCh37)
Canonical SPDI:: NC_000016.10:2968807:G:A
Gene:: KREMEN2 (Varview), PAQR4 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2968808G>A, NC_000016.9:g.3018809G>A

Select item 148753997610.

rs1487539976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:2964852 (GRCh38)
16:3014853 (GRCh37)
Canonical SPDI:: NC_000016.10:2964851:C:G,NC_000016.10:2964851:C:T
Gene:: KREMEN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2964852C>G, NC_000016.10:g.2964852C>T, NC_000016.9:g.3014853C>G, NC_000016.9:g.3014853C>T

Select item 148739690911.

rs1487396909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2963018 (GRCh38)
16:3013019 (GRCh37)
Canonical SPDI:: NC_000016.10:2963017:G:A
Gene:: KREMEN2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.2963018G>A, NC_000016.9:g.3013019G>A

Select item 148715962712.

rs1487159627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:2962302 (GRCh38)
16:3012303 (GRCh37)
Canonical SPDI:: NC_000016.10:2962301:G:C
Gene:: KREMEN2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.2962302G>C, NC_000016.9:g.3012303G>C

Select item 148708407513.

rs1487084075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:2967247 (GRCh38)
16:3017248 (GRCh37)
Canonical SPDI:: NC_000016.10:2967246:G:T
Gene:: KREMEN2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.2967247G>T, NC_000016.9:g.3017248G>T

Select item 148695278914.

rs1486952789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:2964533 (GRCh38)
16:3014534 (GRCh37)
Canonical SPDI:: NC_000016.10:2964532:G:C
Gene:: KREMEN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2964533G>C, NC_000016.9:g.3014534G>C, NM_024507.4:c.13G>C, NM_024507.3:c.13G>C, NM_172229.3:c.13G>C, NM_172229.2:c.13G>C, NM_001253726.2:c.13G>C, NM_001253726.1:c.13G>C, NM_001253725.2:c.13G>C, NM_001253725.1:c.13G>C, NM_145348.1:c.13G>C, NM_145347.1:c.13G>C, NP_078783.1:p.Ala5Pro, NP_757384.1:p.Ala5Pro, NP_001240655.1:p.Ala5Pro, NP_001240654.1:p.Ala5Pro

Select item 148645975915.

rs1486459759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:2964735 (GRCh38)
16:3014736 (GRCh37)
Canonical SPDI:: NC_000016.10:2964734:C:G,NC_000016.10:2964734:C:T
Gene:: KREMEN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.2964735C>G, NC_000016.10:g.2964735C>T, NC_000016.9:g.3014736C>G, NC_000016.9:g.3014736C>T

Select item 148640198616.

rs1486401986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2963882 (GRCh38)
16:3013883 (GRCh37)
Canonical SPDI:: NC_000016.10:2963881:C:T
Gene:: KREMEN2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.2963882C>T, NC_000016.9:g.3013883C>T

Select item 148597892217.

rs1485978922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:2964066 (GRCh38)
16:3014067 (GRCh37)
Canonical SPDI:: NC_000016.10:2964065:T:G
Gene:: KREMEN2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.2964066T>G, NC_000016.9:g.3014067T>G

Select item 148593082218.

rs1485930822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2962242 (GRCh38)
16:3012243 (GRCh37)
Canonical SPDI:: NC_000016.10:2962241:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000106/2 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.2962242G>A, NC_000016.9:g.3012243G>A

Select item 148589144419.

rs1485891444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:2964789 (GRCh38)
16:3014790 (GRCh37)
Canonical SPDI:: NC_000016.10:2964788:A:T
Gene:: KREMEN2 (Varview)
Functional Consequence:: intron_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_000016.10:g.2964789A>T, NC_000016.9:g.3014790A>T

Select item 148524923520.

rs1485249235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2964115 (GRCh38)
16:3014116 (GRCh37)
Canonical SPDI:: NC_000016.10:2964114:G:A
Gene:: KREMEN2 (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)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2964115G>A, NC_000016.9:g.3014116G>A

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