SNP Links for Gene (Select 64320) - SNP

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Select item 14913616021.

rs1491361602 has merged into rs555032127 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 2:218667178 (GRCh38)
2:219531901 (GRCh37)
Canonical SPDI:: NC_000002.12:218667165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:218667165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:218667165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:218667165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:218667165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:218667165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: RNF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000002.12:g.218667178_218667181del, NC_000002.12:g.218667179_218667181del, NC_000002.12:g.218667180_218667181del, NC_000002.12:g.218667181del, NC_000002.12:g.218667181dup, NC_000002.12:g.218667180_218667181dup, NC_000002.11:g.219531901_219531904del, NC_000002.11:g.219531902_219531904del, NC_000002.11:g.219531903_219531904del, NC_000002.11:g.219531904del, NC_000002.11:g.219531904dup, NC_000002.11:g.219531903_219531904dup, NG_029739.1:g.153_156del, NG_029739.1:g.154_156del, NG_029739.1:g.155_156del, NG_029739.1:g.156del, NG_029739.1:g.156dup, NG_029739.1:g.155_156dup

Select item 14912664592.

rs1491266459 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:218667165 (GRCh38)
2:219531888 (GRCh37)
Canonical SPDI:: NC_000002.12:218667164:CA:
Gene:: RNF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.218667165_218667166del, NC_000002.11:g.219531888_219531889del, NG_029739.1:g.140_141del

Select item 14908394563.

rs1490839456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218670935 (GRCh38)
2:219535658 (GRCh37)
Canonical SPDI:: NC_000002.12:218670934:G:A
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218670935G>A, NC_000002.11:g.219535658G>A, NG_029739.1:g.3910G>A

Select item 14902518774.

rs1490251877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218671574 (GRCh38)
2:219536297 (GRCh37)
Canonical SPDI:: NC_000002.12:218671573:T:C
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218671574T>C, NC_000002.11:g.219536297T>C, NG_029739.1:g.4549T>C

Select item 14897510565.

rs1489751056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:218672681 (GRCh38)
2:219537404 (GRCh37)
Canonical SPDI:: NC_000002.12:218672680:T:A,NC_000002.12:218672680:T:C
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218672681T>A, NC_000002.12:g.218672681T>C, NC_000002.11:g.219537404T>A, NC_000002.11:g.219537404T>C, NG_029739.1:g.5656T>A, NG_029739.1:g.5656T>C

Select item 14893482406.

rs1489348240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218670180 (GRCh38)
2:219534903 (GRCh37)
Canonical SPDI:: NC_000002.12:218670179:C:A
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.0005/14 (TOMMO)
HGVS:: NC_000002.12:g.218670180C>A, NC_000002.11:g.219534903C>A, NG_029739.1:g.3155C>A

Select item 14891953247.

rs1489195324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218668315 (GRCh38)
2:219533038 (GRCh37)
Canonical SPDI:: NC_000002.12:218668314:G:A
Gene:: RNF25 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.218668315G>A, NC_000002.11:g.219533038G>A, NG_029739.1:g.1290G>A, XM_017004695.3:c.-194C>T, XM_017004695.2:c.-194C>T, XM_017004695.1:c.-194C>T, NM_022453.3:c.143C>T, NM_022453.2:c.143C>T, NP_071898.2:p.Thr48Ile

Select item 14883804778.

rs1488380477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:218666519 (GRCh38)
2:219531242 (GRCh37)
Canonical SPDI:: NC_000002.12:218666518:C:G
Gene:: RNF25 (Varview)
Functional Consequence:: 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_000002.12:g.218666519C>G, NC_000002.11:g.219531242C>G

Select item 14881805969.

rs1488180596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218669212 (GRCh38)
2:219533935 (GRCh37)
Canonical SPDI:: NC_000002.12:218669211:G:A
Gene:: RNF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218669212G>A, NC_000002.11:g.219533935G>A, NG_029739.1:g.2187G>A

Select item 148807589810.

rs1488075898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218666109 (GRCh38)
2:219530832 (GRCh37)
Canonical SPDI:: NC_000002.12:218666108:C:T
Gene:: RNF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218666109C>T, NC_000002.11:g.219530832C>T

Select item 148807095711.

rs1488070957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218664043 (GRCh38)
2:219528766 (GRCh37)
Canonical SPDI:: NC_000002.12:218664042:A:G
Gene:: RNF25 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.218664043A>G, NC_000002.11:g.219528766A>G, NG_033099.1:g.498T>C, NG_008018.1:g.9388A>G, XM_017004695.3:c.958T>C, XM_017004695.2:c.958T>C, XM_017004695.1:c.958T>C, NM_022453.3:c.1294T>C, NM_022453.2:c.1294T>C, XP_016860184.1:p.Tyr320His, NP_071898.2:p.Tyr432His

Select item 148802471912.

rs1488024719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218672164 (GRCh38)
2:219536887 (GRCh37)
Canonical SPDI:: NC_000002.12:218672163:C:T
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218672164C>T, NC_000002.11:g.219536887C>T, NG_029739.1:g.5139C>T, NM_015690.5:c.-141C>T, NM_015690.4:c.-141C>T, NM_001243313.2:c.-141C>T, NM_001243313.1:c.-141C>T, XM_011510959.3:c.-141C>T, XM_011510959.2:c.-141C>T, XM_011510959.1:c.-141C>T, XM_047443932.1:c.-141C>T

Select item 148798008313.

rs1487980083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218668519 (GRCh38)
2:219533242 (GRCh37)
Canonical SPDI:: NC_000002.12:218668518:C:A
Gene:: RNF25 (Varview)
Functional Consequence:: intron_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_000002.12:g.218668519C>A, NC_000002.11:g.219533242C>A, NG_029739.1:g.1494C>A

Select item 148797418814.

rs1487974188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218673225 (GRCh38)
2:219537948 (GRCh37)
Canonical SPDI:: NC_000002.12:218673224:C:T
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218673225C>T, NC_000002.11:g.219537948C>T, NG_029739.1:g.6200C>T

Select item 148708146615.

rs1487081466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:218665844 (GRCh38)
2:219530567 (GRCh37)
Canonical SPDI:: NC_000002.12:218665843:G:C
Gene:: RNF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218665844G>C, NC_000002.11:g.219530567G>C

Select item 148704611416.

rs1487046114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:218672582 (GRCh38)
2:219537305 (GRCh37)
Canonical SPDI:: NC_000002.12:218672581:G:T
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.218672582G>T, NC_000002.11:g.219537305G>T, NG_029739.1:g.5557G>T

Select item 148698853117.

rs1486988531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:218671949 (GRCh38)
2:219536672 (GRCh37)
Canonical SPDI:: NC_000002.12:218671948:C:A,NC_000002.12:218671948:C:G,NC_000002.12:218671948:C:T
Gene:: STK36 (Varview), RNF25 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_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_000002.12:g.218671949C>A, NC_000002.12:g.218671949C>G, NC_000002.12:g.218671949C>T, NC_000002.11:g.219536672C>A, NC_000002.11:g.219536672C>G, NC_000002.11:g.219536672C>T, NG_029739.1:g.4924C>A, NG_029739.1:g.4924C>G, NG_029739.1:g.4924C>T, XM_017004695.3:c.-386G>T, XM_017004695.3:c.-386G>C, XM_017004695.3:c.-386G>A, XM_017004695.2:c.-386G>T, XM_017004695.2:c.-386G>C, XM_017004695.2:c.-386G>A, XM_017004695.1:c.-386G>T, XM_017004695.1:c.-386G>C, XM_017004695.1:c.-386G>A, NM_022453.3:c.22G>T, NM_022453.3:c.22G>C, NM_022453.3:c.22G>A, NM_022453.2:c.22G>T, NM_022453.2:c.22G>C, NM_022453.2:c.22G>A, NP_071898.2:p.Ala8Ser, NP_071898.2:p.Ala8Pro, NP_071898.2:p.Ala8Thr

Select item 148601121918.

rs1486011219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218668614 (GRCh38)
2:219533337 (GRCh37)
Canonical SPDI:: NC_000002.12:218668613:C:T
Gene:: RNF25 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218668614C>T, NC_000002.11:g.219533337C>T, NG_029739.1:g.1589C>T, XM_017004695.3:c.-230G>A, XM_017004695.2:c.-230G>A, XM_017004695.1:c.-230G>A, NM_022453.3:c.107G>A, NM_022453.2:c.107G>A, NP_071898.2:p.Gly36Glu

Select item 148570444419.

rs1485704444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218665490 (GRCh38)
2:219530213 (GRCh37)
Canonical SPDI:: NC_000002.12:218665489:C:A
Gene:: RNF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000002.12:g.218665490C>A, NC_000002.11:g.219530213C>A

Select item 148519976020.

rs1485199760 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 2:218666525 (GRCh38)
2:219531248 (GRCh37)
Canonical SPDI:: NC_000002.12:218666524:AAAAAAAA:AAAAAAA,NC_000002.12:218666524:AAAAAAAA:AAAAAAAAA
Gene:: RNF25 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000071/1 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.218666532del, NC_000002.12:g.218666532dup, NC_000002.11:g.219531255del, NC_000002.11:g.219531255dup

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