SNP Links for Gene (Select 338949) - SNP

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Select item 14915598291.

rs1491559829 has merged into rs200172705 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 15:72398527 (GRCh38)
15:72690868 (GRCh37)
Canonical SPDI:: NC_000015.10:72398516:TTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:72398516:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:72398516:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:72398516:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:72398516:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000015.10:g.72398527_72398528del, NC_000015.10:g.72398528del, NC_000015.10:g.72398528dup, NC_000015.10:g.72398527_72398528dup, NC_000015.10:g.72398520_72398528dup, NC_000015.9:g.72690868_72690869del, NC_000015.9:g.72690869del, NC_000015.9:g.72690869dup, NC_000015.9:g.72690868_72690869dup, NC_000015.9:g.72690861_72690869dup

Select item 14907991342.

rs1490799134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:72408681 (GRCh38)
15:72701022 (GRCh37)
Canonical SPDI:: NC_000015.10:72408680:A:C
Gene:: TMEM202 (Varview), TMEM202-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.72408681A>C, NC_000015.9:g.72701022A>C

Select item 14907699483.

rs1490769948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72406171 (GRCh38)
15:72698512 (GRCh37)
Canonical SPDI:: NC_000015.10:72406170:A:G
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000162/3 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000043/6 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.72406171A>G, NC_000015.9:g.72698512A>G

Select item 14906176464.

rs1490617646 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 15:72401110 (GRCh38)
15:72693451 (GRCh37)
Canonical SPDI:: NC_000015.10:72401109:GG:G
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.72401111del, NC_000015.9:g.72693452del

Select item 14901742365.

rs1490174236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:72403009 (GRCh38)
15:72695350 (GRCh37)
Canonical SPDI:: NC_000015.10:72403008:G:C
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.72403009G>C, NC_000015.9:g.72695350G>C

Select item 14894052156.

rs1489405215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:72397805 (GRCh38)
15:72690146 (GRCh37)
Canonical SPDI:: NC_000015.10:72397804:A:C
Gene:: TMEM202 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.72397805A>C, NC_000015.9:g.72690146A>C

Select item 14891659977.

rs1489165997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72400966 (GRCh38)
15:72693307 (GRCh37)
Canonical SPDI:: NC_000015.10:72400965:A:G
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_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_000015.10:g.72400966A>G, NC_000015.9:g.72693307A>G

Select item 14891427968.

rs1489142796 [Homo sapiens]

Variant type:: DEL
Alleles:: TAGAGAACTA>- [Show Flanks]
Chromosome:: 15:72398308 (GRCh38)
15:72690649 (GRCh37)
Canonical SPDI:: NC_000015.10:72398307:TAGAGAACTA:
Gene:: TMEM202 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.72398308_72398317del, NC_000015.9:g.72690649_72690658del, XM_011521497.3:c.-144_-135del, NM_001080462.3:c.-19_-10del, NM_001080462.2:c.*4294966460_-14insTAGAG, NM_001080462.2:c.-13_-9del, XM_011521499.3:c.-166_-157del, XM_011521499.2:c.-166_-157del, XM_024449910.2:c.-19_-10del, XM_024449910.1:c.-19_-10del, NR_148418.2:n.4_13del, NR_148418.1:n.0_1insTAGAG, NR_148418.1:n.2_6del, NR_148419.2:n.4_13del, NR_148419.1:n.0_1insTAGAG, NR_148419.1:n.2_6del

Select item 14891183329.

rs1489118332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:72402241 (GRCh38)
15:72694582 (GRCh37)
Canonical SPDI:: NC_000015.10:72402240:C:T
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.72402241C>T, NC_000015.9:g.72694582C>T

Select item 148853533510.

rs1488535335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:72403312 (GRCh38)
15:72695653 (GRCh37)
Canonical SPDI:: NC_000015.10:72403311:A:C
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.72403312A>C, NC_000015.9:g.72695653A>C

Select item 148846913211.

rs1488469132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72396697 (GRCh38)
15:72689038 (GRCh37)
Canonical SPDI:: NC_000015.10:72396696:A:G
Gene:: TMEM202 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00125/21 (TOMMO)
G=0.02514/73 (KOREAN)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.72396697A>G, NC_000015.9:g.72689038A>G

Select item 148828973012.

rs1488289730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:72407732 (GRCh38)
15:72700073 (GRCh37)
Canonical SPDI:: NC_000015.10:72407731:G:A
Gene:: TMEM202 (Varview), TMEM202-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.72407732G>A, NC_000015.9:g.72700073G>A, XM_011521497.3:c.544G>A, XM_011521497.2:c.544G>A, XM_011521497.1:c.544G>A, NM_001080462.3:c.661G>A, NM_001080462.2:c.661G>A, NM_001080462.1:c.661G>A, XM_011521499.3:c.328G>A, XM_011521499.2:c.328G>A, XM_011521499.1:c.328G>A, XM_024449910.2:c.529G>A, XM_024449910.1:c.529G>A, NR_148418.2:n.427G>A, NR_148418.1:n.419G>A, NR_148419.2:n.295G>A, NR_148419.1:n.287G>A, XP_011519799.1:p.Ala182Thr, NP_001073931.1:p.Ala221Thr, XP_011519801.1:p.Ala110Thr, XP_024305678.1:p.Ala177Thr

Select item 148711890413.

rs1487118904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72398317 (GRCh38)
15:72690658 (GRCh37)
Canonical SPDI:: NC_000015.10:72398316:A:G
Gene:: TMEM202 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_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_000015.10:g.72398317A>G, NC_000015.9:g.72690658A>G, XM_011521497.3:c.-135A>G, NM_001080462.3:c.-10A>G, NM_001080462.2:c.-10A>G, XM_011521499.3:c.-157A>G, XM_011521499.2:c.-157A>G, XM_024449910.2:c.-10A>G, XM_024449910.1:c.-10A>G, NR_148418.2:n.13A>G, NR_148418.1:n.5A>G, NR_148419.2:n.13A>G, NR_148419.1:n.5A>G

Select item 148696494214.

rs1486964942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:72400378 (GRCh38)
15:72692719 (GRCh37)
Canonical SPDI:: NC_000015.10:72400377:A:T
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.72400378A>T, NC_000015.9:g.72692719A>T

Select item 148671003215.

rs1486710032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:72397606 (GRCh38)
15:72689947 (GRCh37)
Canonical SPDI:: NC_000015.10:72397605:C:T
Gene:: TMEM202 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.72397606C>T, NC_000015.9:g.72689947C>T

Select item 148646327116.

rs1486463271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:72398713 (GRCh38)
15:72691054 (GRCh37)
Canonical SPDI:: NC_000015.10:72398712:C:G
Gene:: TMEM202 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.72398713C>G, NC_000015.9:g.72691054C>G, XM_011521497.3:c.25C>G, XM_011521497.2:c.25C>G, XM_011521497.1:c.25C>G, NM_001080462.3:c.142C>G, NM_001080462.2:c.142C>G, NM_001080462.1:c.142C>G, XM_024449910.2:c.142C>G, XM_024449910.1:c.142C>G, XP_011519799.1:p.Leu9Val, NP_001073931.1:p.Leu48Val, XP_024305678.1:p.Leu48Val

Select item 148633861017.

rs1486338610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:72404246 (GRCh38)
15:72696587 (GRCh37)
Canonical SPDI:: NC_000015.10:72404245:T:G
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.72404246T>G, NC_000015.9:g.72696587T>G

Select item 148594517618.

rs1485945176 has merged into rs1027868324 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 15:72406144 (GRCh38)
15:72698485 (GRCh37)
Canonical SPDI:: NC_000015.10:72406143:AAAAAAA:AAAAAA,NC_000015.10:72406143:AAAAAAA:AAAAAAAA
Gene:: TMEM202 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0.000054/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.72406150del, NC_000015.10:g.72406150dup, NC_000015.9:g.72698491del, NC_000015.9:g.72698491dup

Select item 148589714619.

rs1485897146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:72398756 (GRCh38)
15:72691097 (GRCh37)
Canonical SPDI:: NC_000015.10:72398755:G:A
Gene:: TMEM202 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.72398756G>A, NC_000015.9:g.72691097G>A, XM_011521497.3:c.68G>A, XM_011521497.2:c.68G>A, XM_011521497.1:c.68G>A, NM_001080462.3:c.185G>A, NM_001080462.2:c.185G>A, NM_001080462.1:c.185G>A, XM_024449910.2:c.185G>A, XM_024449910.1:c.185G>A, XP_011519799.1:p.Ser23Asn, NP_001073931.1:p.Ser62Asn, XP_024305678.1:p.Ser62Asn

Select item 148574353220.

rs1485743532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:72396896 (GRCh38)
15:72689237 (GRCh37)
Canonical SPDI:: NC_000015.10:72396895:G:A
Gene:: TMEM202 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.72396896G>A, NC_000015.9:g.72689237G>A

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