SNP Links for Gene (Select 7220) - SNP

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Select item 14915734371.

rs1491573437 has merged into rs3836385 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 3:142802393 (GRCh38)
3:142521235 (GRCh37)
Canonical SPDI:: NC_000003.12:142802382:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:142802382:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:142802382:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:142802382:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:142802382:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: TRPC1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.247204/1238 (1000Genomes)
T=0.321746/85163 (TOPMED)
T=0.408147/1573 (ALSPAC)
T=0.411543/1526 (TWINSUK)
T=0.425/17 (GENOME_DK)
HGVS:: NC_000003.12:g.142802393_142802394del, NC_000003.12:g.142802394del, NC_000003.12:g.142802394dup, NC_000003.12:g.142802393_142802394dup, NC_000003.12:g.142802392_142802394dup, NC_000003.11:g.142521235_142521236del, NC_000003.11:g.142521236del, NC_000003.11:g.142521236dup, NC_000003.11:g.142521235_142521236dup, NC_000003.11:g.142521234_142521236dup, NG_030369.1:g.82970_82971del, NG_030369.1:g.82971del, NG_030369.1:g.82971dup, NG_030369.1:g.82970_82971dup, NG_030369.1:g.82969_82971dup

Select item 14915662852.

rs1491566285 has merged into rs10609600 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:142754099 (GRCh38)
3:142472941 (GRCh37)
Canonical SPDI:: NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142754089:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.142754099_142754113del, NC_000003.12:g.142754100_142754113del, NC_000003.12:g.142754101_142754113del, NC_000003.12:g.142754102_142754113del, NC_000003.12:g.142754103_142754113del, NC_000003.12:g.142754104_142754113del, NC_000003.12:g.142754105_142754113del, NC_000003.12:g.142754106_142754113del, NC_000003.12:g.142754107_142754113del, NC_000003.12:g.142754108_142754113del, NC_000003.12:g.142754109_142754113del, NC_000003.12:g.142754110_142754113del, NC_000003.12:g.142754111_142754113del, NC_000003.12:g.142754112_142754113del, NC_000003.12:g.142754113del, NC_000003.12:g.142754113dup, NC_000003.12:g.142754112_142754113dup, NC_000003.12:g.142754111_142754113dup, NC_000003.12:g.142754110_142754113dup, NC_000003.12:g.142754109_142754113dup, NC_000003.12:g.142754108_142754113dup, NC_000003.12:g.142754098_142754113dup, NC_000003.12:g.142754090_142754113dup, NC_000003.11:g.142472941_142472955del, NC_000003.11:g.142472942_142472955del, NC_000003.11:g.142472943_142472955del, NC_000003.11:g.142472944_142472955del, NC_000003.11:g.142472945_142472955del, NC_000003.11:g.142472946_142472955del, NC_000003.11:g.142472947_142472955del, NC_000003.11:g.142472948_142472955del, NC_000003.11:g.142472949_142472955del, NC_000003.11:g.142472950_142472955del, NC_000003.11:g.142472951_142472955del, NC_000003.11:g.142472952_142472955del, NC_000003.11:g.142472953_142472955del, NC_000003.11:g.142472954_142472955del, NC_000003.11:g.142472955del, NC_000003.11:g.142472955dup, NC_000003.11:g.142472954_142472955dup, NC_000003.11:g.142472953_142472955dup, NC_000003.11:g.142472952_142472955dup, NC_000003.11:g.142472951_142472955dup, NC_000003.11:g.142472950_142472955dup, NC_000003.11:g.142472940_142472955dup, NC_000003.11:g.142472932_142472955dup, NG_030369.1:g.34676_34690del, NG_030369.1:g.34677_34690del, NG_030369.1:g.34678_34690del, NG_030369.1:g.34679_34690del, NG_030369.1:g.34680_34690del, NG_030369.1:g.34681_34690del, NG_030369.1:g.34682_34690del, NG_030369.1:g.34683_34690del, NG_030369.1:g.34684_34690del, NG_030369.1:g.34685_34690del, NG_030369.1:g.34686_34690del, NG_030369.1:g.34687_34690del, NG_030369.1:g.34688_34690del, NG_030369.1:g.34689_34690del, NG_030369.1:g.34690del, NG_030369.1:g.34690dup, NG_030369.1:g.34689_34690dup, NG_030369.1:g.34688_34690dup, NG_030369.1:g.34687_34690dup, NG_030369.1:g.34686_34690dup, NG_030369.1:g.34685_34690dup, NG_030369.1:g.34675_34690dup, NG_030369.1:g.34667_34690dup

Select item 14915304103.

rs1491530410 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:142806389 (GRCh38)
3:142525231 (GRCh37)
Canonical SPDI:: NC_000003.12:142806388:TA:
Gene:: TRPC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142806389_142806390del, NC_000003.11:g.142525231_142525232del, NG_030369.1:g.86966_86967del, NM_003304.5:c.*154_*155del, NM_003304.4:c.*154_*155del, NM_001251845.2:c.*154_*155del, NM_001251845.1:c.*154_*155del, XM_005247738.5:c.*154_*155del, XM_005247738.4:c.*154_*155del, XM_005247738.3:c.*154_*155del, XM_005247738.2:c.*154_*155del, XM_005247738.1:c.*154_*155del, XM_017007121.3:c.*154_*155del, XM_017007121.2:c.*154_*155del, XM_017007121.1:c.*154_*155del, XM_005247739.3:c.*154_*155del, XM_005247739.2:c.*154_*155del, XM_005247739.1:c.*154_*155del, XM_047448839.1:c.*154_*155del

Select item 14914442244.

rs1491444224 has merged into rs1387615813 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 3:142764011 (GRCh38)
3:142482853 (GRCh37)
Canonical SPDI:: NC_000003.12:142763999:ATATATATATATATATA:ATATATATATA,NC_000003.12:142763999:ATATATATATATATATA:ATATATATATATA,NC_000003.12:142763999:ATATATATATATATATA:ATATATATATATATA,NC_000003.12:142763999:ATATATATATATATATA:ATATATATATATATATATA,NC_000003.12:142763999:ATATATATATATATATA:ATATATATATATATATATATA
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
AT=0.00357/2 (NorthernSweden)
-=0.00395/7 (Korea1K)
HGVS:: NC_000003.12:g.142764001TA[5], NC_000003.12:g.142764001TA[6], NC_000003.12:g.142764001TA[7], NC_000003.12:g.142764001TA[9], NC_000003.12:g.142764001TA[10], NC_000003.11:g.142482843TA[5], NC_000003.11:g.142482843TA[6], NC_000003.11:g.142482843TA[7], NC_000003.11:g.142482843TA[9], NC_000003.11:g.142482843TA[10], NG_030369.1:g.44578TA[5], NG_030369.1:g.44578TA[6], NG_030369.1:g.44578TA[7], NG_030369.1:g.44578TA[9], NG_030369.1:g.44578TA[10]

Select item 14914234435.

rs1491423443 has merged into rs67169946 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTCTGT [Show Flanks]
Chromosome:: 3:142737338 (GRCh38)
3:142456180 (GRCh37)
Canonical SPDI:: NC_000003.12:142737336:TGT:T,NC_000003.12:142737336:TGT:TGTCTGT
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.006913/82 (ALFA)
-=0.000283/5 (TOMMO)
-=0.004267/494 (GnomAD)
HGVS:: NC_000003.12:g.142737338_142737339del, NC_000003.12:g.142737339_142737340insCTGT, NC_000003.11:g.142456180_142456181del, NC_000003.11:g.142456181_142456182insCTGT, NG_030369.1:g.17915_17916del, NG_030369.1:g.17916_17917insCTGT

Select item 14913132136.

rs1491313213 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:142754089 (GRCh38)
3:142472931 (GRCh37)
Canonical SPDI:: NC_000003.12:142754088:CA:
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00211/25 (ALFA)
-=0.00223/37 (TOMMO)
HGVS:: NC_000003.12:g.142754089_142754090del, NC_000003.11:g.142472931_142472932del, NG_030369.1:g.34666_34667del

Select item 14913102087.

rs1491310208 has merged into rs57709436 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 3:142763985 (GRCh38)
3:142482827 (GRCh37)
Canonical SPDI:: NC_000003.12:142763983:ACACA:A,NC_000003.12:142763983:ACACA:ACA,NC_000003.12:142763983:ACACA:ACACACA,NC_000003.12:142763983:ACACA:ACACACACA,NC_000003.12:142763983:ACACA:ACACACACACA,NC_000003.12:142763983:ACACA:ACACACACACACA
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.00138/23 (TOMMO)
HGVS:: NC_000003.12:g.142763985_142763988del, NC_000003.12:g.142763985CA[1], NC_000003.12:g.142763985CA[3], NC_000003.12:g.142763985CA[4], NC_000003.12:g.142763985CA[5], NC_000003.12:g.142763985CA[6], NC_000003.11:g.142482827_142482830del, NC_000003.11:g.142482827CA[1], NC_000003.11:g.142482827CA[3], NC_000003.11:g.142482827CA[4], NC_000003.11:g.142482827CA[5], NC_000003.11:g.142482827CA[6], NG_030369.1:g.44562_44565del, NG_030369.1:g.44562CA[1], NG_030369.1:g.44562CA[3], NG_030369.1:g.44562CA[4], NG_030369.1:g.44562CA[5], NG_030369.1:g.44562CA[6]

Select item 14912458358.

rs1491245835 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:142757230 (GRCh38)
3:142476072 (GRCh37)
Canonical SPDI:: NC_000003.12:142757229:GA:
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.142757230_142757231del, NC_000003.11:g.142476072_142476073del, NG_030369.1:g.37807_37808del

Select item 14912274609.

rs1491227460 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGGTATATATATATATATATATAT [Show Flanks]
Chromosome:: 3:142723156 (GRCh38)
3:142441999 (GRCh37)
Canonical SPDI:: NC_000003.12:142723156:TATATATATATATATATATAT:TATATATATATATATATATATGTGGTATATATATATATATATATAT
Gene:: TRPC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATGTGGTATATATATATATATATATAT=0./0 (ALFA)
TATATATATATATATATATATGTGG=0.00212/16 (GnomAD)
TATATATATATATATATATATGTGG=0.00411/66 (TOMMO)
ATATATATATATATATGTGGTATAT=0.01017/18 (Korea1K)
HGVS:: NC_000003.12:g.142723157_142723177TA[10]TG[2]GTATATATATATATATATATAT[1], NC_000003.11:g.142441999_142442019TA[10]TG[2]GTATATATATATATATATATAT[1], NG_030369.1:g.3734_3754TA[10]TG[2]GTATATATATATATATATATAT[1]

Select item 149115006510.

rs1491150065 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AC
Chromosome:: no mapping
Canonical SPDI:

Select item 149108784111.

rs1491087841 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:142757357 (GRCh38)
3:142476199 (GRCh37)
Canonical SPDI:: NC_000003.12:142757356:AT:
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000136/19 (GnomAD)
HGVS:: NC_000003.12:g.142757357_142757358del, NC_000003.11:g.142476199_142476200del, NG_030369.1:g.37934_37935del

Select item 149107819212.

rs1491078192 has merged into rs59126201 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:142732975 (GRCh38)
3:142451817 (GRCh37)
Canonical SPDI:: NC_000003.12:142732966:TTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:142732966:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:142732966:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:142732966:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:142732966:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:142732966:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:142732966:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:142732966:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TRPC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.1741/671 (ALSPAC)
T=0.18689/693 (TWINSUK)
-=0.21881/812 (1000Genomes)
T=0.25/10 (GENOME_DK)
HGVS:: NC_000003.12:g.142732975_142732979del, NC_000003.12:g.142732977_142732979del, NC_000003.12:g.142732978_142732979del, NC_000003.12:g.142732979del, NC_000003.12:g.142732979dup, NC_000003.12:g.142732978_142732979dup, NC_000003.12:g.142732977_142732979dup, NC_000003.12:g.142732968_142732979dup, NC_000003.11:g.142451817_142451821del, NC_000003.11:g.142451819_142451821del, NC_000003.11:g.142451820_142451821del, NC_000003.11:g.142451821del, NC_000003.11:g.142451821dup, NC_000003.11:g.142451820_142451821dup, NC_000003.11:g.142451819_142451821dup, NC_000003.11:g.142451810_142451821dup, NG_030369.1:g.13552_13556del, NG_030369.1:g.13554_13556del, NG_030369.1:g.13555_13556del, NG_030369.1:g.13556del, NG_030369.1:g.13556dup, NG_030369.1:g.13555_13556dup, NG_030369.1:g.13554_13556dup, NG_030369.1:g.13545_13556dup

Select item 149105981913.

rs1491059819 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:142754112 (GRCh38)
3:142472955 (GRCh37)
Canonical SPDI:: NC_000003.12:142754112::G
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000003.12:g.142754112_142754113insG, NC_000003.11:g.142472954_142472955insG, NG_030369.1:g.34689_34690insG

Select item 149100334414.

rs1491003344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:142750887 (GRCh38)
3:142469729 (GRCh37)
Canonical SPDI:: NC_000003.12:142750886:T:G
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142750887T>G, NC_000003.11:g.142469729T>G, NG_030369.1:g.31464T>G

Select item 149097776915.

rs1490977769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:142752106 (GRCh38)
3:142470948 (GRCh37)
Canonical SPDI:: NC_000003.12:142752105:G:A
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.142752106G>A, NC_000003.11:g.142470948G>A, NG_030369.1:g.32683G>A

Select item 149079616616.

rs1490796166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:142726890 (GRCh38)
3:142445732 (GRCh37)
Canonical SPDI:: NC_000003.12:142726889:C:T
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142726890C>T, NC_000003.11:g.142445732C>T, NG_030369.1:g.7467C>T

Select item 149077376217.

rs1490773762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:142743213 (GRCh38)
3:142462055 (GRCh37)
Canonical SPDI:: NC_000003.12:142743212:A:C
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142743213A>C, NC_000003.11:g.142462055A>C, NG_030369.1:g.23790A>C

Select item 149069968018.

rs1490699680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 3:142805791 (GRCh38)
3:142524633 (GRCh37)
Canonical SPDI:: NC_000003.12:142805790:T:A,NC_000003.12:142805790:T:G
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142805791T>A, NC_000003.12:g.142805791T>G, NC_000003.11:g.142524633T>A, NC_000003.11:g.142524633T>G, NG_030369.1:g.86368T>A, NG_030369.1:g.86368T>G

Select item 149065893919.

rs1490658939 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:142791265 (GRCh38)
3:142510107 (GRCh37)
Canonical SPDI:: NC_000003.12:142791264:GG:G
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.142791266del, NC_000003.11:g.142510108del, NG_030369.1:g.71843del

Select item 149063416620.

rs1490634166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142741266 (GRCh38)
3:142460108 (GRCh37)
Canonical SPDI:: NC_000003.12:142741265:A:G
Gene:: TRPC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142741266A>G, NC_000003.11:g.142460108A>G, NG_030369.1:g.21843A>G

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