SNP Links for Nucleotide (Select 187761336) - SNP

Links from Nucleotide

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Select item 14915649911.

rs1491564991 has merged into rs34414922 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:68227419 (GRCh38)
4:69093137 (GRCh37)
Canonical SPDI:: NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:68227405:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMPRSS11B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.68227419_68227424del, NC_000004.12:g.68227420_68227424del, NC_000004.12:g.68227421_68227424del, NC_000004.12:g.68227422_68227424del, NC_000004.12:g.68227423_68227424del, NC_000004.12:g.68227424del, NC_000004.12:g.68227424dup, NC_000004.12:g.68227423_68227424dup, NC_000004.12:g.68227422_68227424dup, NC_000004.12:g.68227421_68227424dup, NC_000004.12:g.68227420_68227424dup, NC_000004.12:g.68227419_68227424dup, NC_000004.12:g.68227418_68227424dup, NC_000004.12:g.68227417_68227424dup, NC_000004.12:g.68227416_68227424dup, NC_000004.12:g.68227415_68227424dup, NC_000004.12:g.68227414_68227424dup, NC_000004.12:g.68227424_68227425insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.68227424_68227425insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.69093137_69093142del, NC_000004.11:g.69093138_69093142del, NC_000004.11:g.69093139_69093142del, NC_000004.11:g.69093140_69093142del, NC_000004.11:g.69093141_69093142del, NC_000004.11:g.69093142del, NC_000004.11:g.69093142dup, NC_000004.11:g.69093141_69093142dup, NC_000004.11:g.69093140_69093142dup, NC_000004.11:g.69093139_69093142dup, NC_000004.11:g.69093138_69093142dup, NC_000004.11:g.69093137_69093142dup, NC_000004.11:g.69093136_69093142dup, NC_000004.11:g.69093135_69093142dup, NC_000004.11:g.69093134_69093142dup, NC_000004.11:g.69093133_69093142dup, NC_000004.11:g.69093132_69093142dup, NC_000004.11:g.69093142_69093143insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.69093142_69093143insTTTTTTTTTTTTTTTTTTTTTTT, NM_182502.3:c.*500_*505del, NM_182502.3:c.*501_*505del, NM_182502.3:c.*502_*505del, NM_182502.3:c.*503_*505del, NM_182502.3:c.*504_*505del, NM_182502.3:c.*505del, NM_182502.3:c.*505dup, NM_182502.3:c.*504_*505dup, NM_182502.3:c.*503_*505dup, NM_182502.3:c.*502_*505dup, NM_182502.3:c.*501_*505dup, NM_182502.3:c.*500_*505dup, NM_182502.3:c.*499_*505dup, NM_182502.3:c.*498_*505dup, NM_182502.3:c.*497_*505dup, NM_182502.3:c.*496_*505dup, NM_182502.3:c.*495_*505dup, NM_182502.3:c.*505_*506insAAAAAAAAAAAAAAAAAAAAAA, NM_182502.3:c.*505_*506insAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915565562.

rs1491556556 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 4:68227404 (GRCh38)
4:69093123 (GRCh37)
Canonical SPDI:: NC_000004.12:68227404::TT
Gene:: TMPRSS11B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0.00006/1 (ALFA)
HGVS:: NC_000004.12:g.68227404_68227405insTT, NC_000004.11:g.69093122_69093123insTT, NM_182502.3:c.*506_*507insAA

Select item 14914784283.

rs1491478428 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 4:68227404 (GRCh38)
4:69093122 (GRCh37)
Canonical SPDI:: NC_000004.12:68227403:CC:
Gene:: TMPRSS11B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000004.12:g.68227404_68227405del, NC_000004.11:g.69093122_69093123del, NM_182502.3:c.*506_*507del

Select item 14912349984.

rs1491234998 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:68227406 (GRCh38)
4:69093125 (GRCh37)
Canonical SPDI:: NC_000004.12:68227406::G
Gene:: TMPRSS11B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.68227406_68227407insG, NC_000004.11:g.69093124_69093125insG, NM_182502.3:c.*504_*505insC

Select item 14904917735.

rs1490491773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68227723 (GRCh38)
4:69093441 (GRCh37)
Canonical SPDI:: NC_000004.12:68227722:A:G
Gene:: TMPRSS11B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.68227723A>G, NC_000004.11:g.69093441A>G, NM_182502.3:c.*188T>C

Select item 14883729006.

rs1488372900 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:68231208 (GRCh38)
4:69096926 (GRCh37)
Canonical SPDI:: NC_000004.12:68231207:AAA:AA
Gene:: TMPRSS11B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68231210del, NC_000004.11:g.69096928del, NM_182502.3:c.681del, XM_011531608.3:c.681del, XM_011531608.2:c.681del, XM_011531608.1:c.681del, XM_011531609.1:c.681del, NP_872308.2:p.Phe227fs, XP_011529910.1:p.Phe227fs, XP_011529911.1:p.Phe227fs

Select item 14854331557.

rs1485433155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:68227711 (GRCh38)
4:69093429 (GRCh37)
Canonical SPDI:: NC_000004.12:68227710:C:A
Gene:: TMPRSS11B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.68227711C>A, NC_000004.11:g.69093429C>A, NM_182502.3:c.*200G>T

Select item 14850724408.

rs1485072440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68229383 (GRCh38)
4:69095101 (GRCh37)
Canonical SPDI:: NC_000004.12:68229382:C:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68229383C>T, NC_000004.11:g.69095101C>T, NM_182502.3:c.820G>A, XM_011531608.3:c.820G>A, XM_011531608.2:c.820G>A, XM_011531608.1:c.820G>A, NP_872308.2:p.Val274Met, XP_011529910.1:p.Val274Met

Select item 14840301419.

rs1484030141 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:68226942 (GRCh38)
4:69092660 (GRCh37)
Canonical SPDI:: NC_000004.12:68226941:TTTT:TTT
Gene:: TMPRSS11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68226945del, NC_000004.11:g.69092663del, NM_182502.3:c.*969del, XM_011531608.3:c.*157del, XM_011531608.2:c.*157del, XM_011531608.1:c.*157del

Select item 148211889510.

rs1482118895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68236260 (GRCh38)
4:69101978 (GRCh37)
Canonical SPDI:: NC_000004.12:68236259:G:A
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68236260G>A, NC_000004.11:g.69101978G>A, NM_182502.3:c.131C>T, XM_011531608.3:c.131C>T, XM_011531608.2:c.131C>T, XM_011531608.1:c.131C>T, XM_011531609.1:c.131C>T, NP_872308.2:p.Thr44Ile, XP_011529910.1:p.Thr44Ile, XP_011529911.1:p.Thr44Ile

Select item 148167281411.

rs1481672814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68227878 (GRCh38)
4:69093596 (GRCh37)
Canonical SPDI:: NC_000004.12:68227877:G:A
Gene:: TMPRSS11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.68227878G>A, NC_000004.11:g.69093596G>A, NM_182502.3:c.*33C>T, XM_011531608.3:c.*33C>T, XM_011531608.2:c.*33C>T, XM_011531608.1:c.*33C>T

Select item 147970937812.

rs1479709378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 4:68226953 (GRCh38)
4:69092671 (GRCh37)
Canonical SPDI:: NC_000004.12:68226952:A:C,NC_000004.12:68226952:A:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68226953A>C, NC_000004.12:g.68226953A>T, NC_000004.11:g.69092671A>C, NC_000004.11:g.69092671A>T, NM_182502.3:c.*958T>G, NM_182502.3:c.*958T>A, XM_011531608.3:c.*146T>G, XM_011531608.3:c.*146T>A, XM_011531608.2:c.*146T>G, XM_011531608.2:c.*146T>A, XM_011531608.1:c.*146T>G, XM_011531608.1:c.*146T>A

Select item 147967802813.

rs1479678028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68227462 (GRCh38)
4:69093180 (GRCh37)
Canonical SPDI:: NC_000004.12:68227461:A:G
Gene:: TMPRSS11B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000016/2 (GnomAD)
HGVS:: NC_000004.12:g.68227462A>G, NC_000004.11:g.69093180A>G, NM_182502.3:c.*449T>C

Select item 147899032614.

rs1478990326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68227945 (GRCh38)
4:69093663 (GRCh37)
Canonical SPDI:: NC_000004.12:68227944:T:C
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68227945T>C, NC_000004.11:g.69093663T>C, NM_182502.3:c.1217A>G, XM_011531608.3:c.1217A>G, XM_011531608.2:c.1217A>G, XM_011531608.1:c.1217A>G, NP_872308.2:p.Tyr406Cys, XP_011529910.1:p.Tyr406Cys

Select item 147589960015.

rs1475899600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:68227427 (GRCh38)
4:69093145 (GRCh37)
Canonical SPDI:: NC_000004.12:68227426:G:A,NC_000004.12:68227426:G:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000022/1 (GnomAD)
HGVS:: NC_000004.12:g.68227427G>A, NC_000004.12:g.68227427G>T, NC_000004.11:g.69093145G>A, NC_000004.11:g.69093145G>T, NM_182502.3:c.*484C>T, NM_182502.3:c.*484C>A

Select item 147422346416.

rs1474223464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68228765 (GRCh38)
4:69094483 (GRCh37)
Canonical SPDI:: NC_000004.12:68228764:A:G
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68228765A>G, NC_000004.11:g.69094483A>G, NM_182502.3:c.1066T>C, XM_011531608.3:c.1066T>C, XM_011531608.2:c.1066T>C, XM_011531608.1:c.1066T>C, NP_872308.2:p.Ser356Pro, XP_011529910.1:p.Ser356Pro

Select item 147389627517.

rs1473896275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68227883 (GRCh38)
4:69093601 (GRCh37)
Canonical SPDI:: NC_000004.12:68227882:T:C
Gene:: TMPRSS11B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68227883T>C, NC_000004.11:g.69093601T>C, NM_182502.3:c.*28A>G, XM_011531608.3:c.*28A>G, XM_011531608.2:c.*28A>G, XM_011531608.1:c.*28A>G

Select item 147133081618.

rs1471330816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68229392 (GRCh38)
4:69095110 (GRCh37)
Canonical SPDI:: NC_000004.12:68229391:T:C
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68229392T>C, NC_000004.11:g.69095110T>C, NM_182502.3:c.811A>G, XM_011531608.3:c.811A>G, XM_011531608.2:c.811A>G, XM_011531608.1:c.811A>G, NP_872308.2:p.Ile271Val, XP_011529910.1:p.Ile271Val

Select item 147110942919.

rs1471109429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:68227451 (GRCh38)
4:69093169 (GRCh37)
Canonical SPDI:: NC_000004.12:68227450:G:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.68227451G>T, NC_000004.11:g.69093169G>T, NM_182502.3:c.*460C>A

Select item 147001453120.

rs1470014531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68227474 (GRCh38)
4:69093192 (GRCh37)
Canonical SPDI:: NC_000004.12:68227473:A:G
Gene:: TMPRSS11B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.68227474A>G, NC_000004.11:g.69093192A>G, NM_182502.3:c.*437T>C

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