SNP Links for Nucleotide (Select 1046754202) - SNP

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Select item 14914884841.

rs1491488484 has merged into rs5839210 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:227363426 (GRCh38)
2:228228142 (GRCh37)
Canonical SPDI:: NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.3968/1987 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.227363426_227363432del, NC_000002.12:g.227363427_227363432del, NC_000002.12:g.227363428_227363432del, NC_000002.12:g.227363429_227363432del, NC_000002.12:g.227363430_227363432del, NC_000002.12:g.227363431_227363432del, NC_000002.12:g.227363432del, NC_000002.12:g.227363432dup, NC_000002.12:g.227363431_227363432dup, NC_000002.12:g.227363430_227363432dup, NC_000002.12:g.227363429_227363432dup, NC_000002.12:g.227363428_227363432dup, NC_000002.12:g.227363427_227363432dup, NC_000002.11:g.228228142_228228148del, NC_000002.11:g.228228143_228228148del, NC_000002.11:g.228228144_228228148del, NC_000002.11:g.228228145_228228148del, NC_000002.11:g.228228146_228228148del, NC_000002.11:g.228228147_228228148del, NC_000002.11:g.228228148del, NC_000002.11:g.228228148dup, NC_000002.11:g.228228147_228228148dup, NC_000002.11:g.228228146_228228148dup, NC_000002.11:g.228228145_228228148dup, NC_000002.11:g.228228144_228228148dup, NC_000002.11:g.228228143_228228148dup, NG_051253.1:g.20885_20891del, NG_051253.1:g.20886_20891del, NG_051253.1:g.20887_20891del, NG_051253.1:g.20888_20891del, NG_051253.1:g.20889_20891del, NG_051253.1:g.20890_20891del, NG_051253.1:g.20891del, NG_051253.1:g.20891dup, NG_051253.1:g.20890_20891dup, NG_051253.1:g.20889_20891dup, NG_051253.1:g.20888_20891dup, NG_051253.1:g.20887_20891dup, NG_051253.1:g.20886_20891dup, NM_024795.4:c.*302_*308del, NM_024795.4:c.*303_*308del, NM_024795.4:c.*304_*308del, NM_024795.4:c.*305_*308del, NM_024795.4:c.*306_*308del, NM_024795.4:c.*307_*308del, NM_024795.4:c.*308del, NM_024795.4:c.*308dup, NM_024795.4:c.*307_*308dup, NM_024795.4:c.*306_*308dup, NM_024795.4:c.*305_*308dup, NM_024795.4:c.*304_*308dup, NM_024795.4:c.*303_*308dup, NM_024795.3:c.*302_*308del, NM_024795.3:c.*303_*308del, NM_024795.3:c.*304_*308del, NM_024795.3:c.*305_*308del, NM_024795.3:c.*306_*308del, NM_024795.3:c.*307_*308del, NM_024795.3:c.*308del, NM_024795.3:c.*308dup, NM_024795.3:c.*307_*308dup, NM_024795.3:c.*306_*308dup, NM_024795.3:c.*305_*308dup, NM_024795.3:c.*304_*308dup, NM_024795.3:c.*303_*308dup, XM_011511876.3:c.*302_*308del, XM_011511876.3:c.*303_*308del, XM_011511876.3:c.*304_*308del, XM_011511876.3:c.*305_*308del, XM_011511876.3:c.*306_*308del, XM_011511876.3:c.*307_*308del, XM_011511876.3:c.*308del, XM_011511876.3:c.*308dup, XM_011511876.3:c.*307_*308dup, XM_011511876.3:c.*306_*308dup, XM_011511876.3:c.*305_*308dup, XM_011511876.3:c.*304_*308dup, XM_011511876.3:c.*303_*308dup, XM_011511876.2:c.*302_*308del, XM_011511876.2:c.*303_*308del, XM_011511876.2:c.*304_*308del, XM_011511876.2:c.*305_*308del, XM_011511876.2:c.*306_*308del, XM_011511876.2:c.*307_*308del, XM_011511876.2:c.*308del, XM_011511876.2:c.*308dup, XM_011511876.2:c.*307_*308dup, XM_011511876.2:c.*306_*308dup, XM_011511876.2:c.*305_*308dup, XM_011511876.2:c.*304_*308dup, XM_011511876.2:c.*303_*308dup

Select item 14909957752.

rs1490995775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227363633 (GRCh38)
2:228228349 (GRCh37)
Canonical SPDI:: NC_000002.12:227363632:T:C
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.227363633T>C, NC_000002.11:g.228228349T>C, NG_051253.1:g.20674A>G, NM_024795.4:c.*91A>G, NM_024795.3:c.*91A>G, XM_011511876.3:c.*91A>G, XM_011511876.2:c.*91A>G

Select item 14901886263.

rs1490188626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227363766 (GRCh38)
2:228228482 (GRCh37)
Canonical SPDI:: NC_000002.12:227363765:G:A
Gene:: TM4SF20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227363766G>A, NC_000002.11:g.228228482G>A, NG_051253.1:g.20541C>T, NM_024795.4:c.648C>T, NM_024795.3:c.648C>T, XM_011511876.3:c.447C>T, XM_011511876.2:c.447C>T, XM_011511876.1:c.447C>T

Select item 14872188534.

rs1487218853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227379183 (GRCh38)
2:228243899 (GRCh37)
Canonical SPDI:: NC_000002.12:227379182:G:A
Gene:: TM4SF20 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.227379183G>A, NC_000002.11:g.228243899G>A, NG_051253.1:g.5124C>T, NM_024795.4:c.86C>T, NM_024795.3:c.86C>T, NP_079071.2:p.Pro29Leu

Select item 14865909465.

rs1486590946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227363054 (GRCh38)
2:228227770 (GRCh37)
Canonical SPDI:: NC_000002.12:227363053:T:C
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000684/2 (KOREAN)
HGVS:: NC_000002.12:g.227363054T>C, NC_000002.11:g.228227770T>C, NG_051253.1:g.21253A>G, NM_024795.4:c.*670A>G, NM_024795.3:c.*670A>G, XM_011511876.3:c.*670A>G, XM_011511876.2:c.*670A>G

Select item 14865850916.

rs1486585091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:227363435 (GRCh38)
2:228228151 (GRCh37)
Canonical SPDI:: NC_000002.12:227363434:C:A
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000002.12:g.227363435C>A, NC_000002.11:g.228228151C>A, NG_051253.1:g.20872G>T, NM_024795.4:c.*289G>T, NM_024795.3:c.*289G>T, XM_011511876.3:c.*289G>T, XM_011511876.2:c.*289G>T

Select item 14863319817.

rs1486331981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:227363660 (GRCh38)
2:228228376 (GRCh37)
Canonical SPDI:: NC_000002.12:227363659:T:G
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.227363660T>G, NC_000002.11:g.228228376T>G, NG_051253.1:g.20647A>C, NM_024795.4:c.*64A>C, NM_024795.3:c.*64A>C, XM_011511876.3:c.*64A>C, XM_011511876.2:c.*64A>C

Select item 14862046548.

rs1486204654 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:227362597 (GRCh38)
2:228227313 (GRCh37)
Canonical SPDI:: NC_000002.12:227362596:TT:T
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227362598del, NC_000002.11:g.228227314del, NG_051253.1:g.21710del, NM_024795.4:c.*1127del, NM_024795.3:c.*1127del, XM_011511876.3:c.*1127del, XM_011511876.2:c.*1127del

Select item 14861649259.

rs1486164925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227363814 (GRCh38)
2:228228530 (GRCh37)
Canonical SPDI:: NC_000002.12:227363813:A:G
Gene:: TM4SF20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.227363814A>G, NC_000002.11:g.228228530A>G, NG_051253.1:g.20493T>C, NM_024795.4:c.600T>C, NM_024795.3:c.600T>C, XM_011511876.3:c.399T>C, XM_011511876.2:c.399T>C, XM_011511876.1:c.399T>C

Select item 148178808410.

rs1481788084 has merged into rs5839210 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:227363426 (GRCh38)
2:228228142 (GRCh37)
Canonical SPDI:: NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:227363415:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.3968/1987 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.227363426_227363432del, NC_000002.12:g.227363427_227363432del, NC_000002.12:g.227363428_227363432del, NC_000002.12:g.227363429_227363432del, NC_000002.12:g.227363430_227363432del, NC_000002.12:g.227363431_227363432del, NC_000002.12:g.227363432del, NC_000002.12:g.227363432dup, NC_000002.12:g.227363431_227363432dup, NC_000002.12:g.227363430_227363432dup, NC_000002.12:g.227363429_227363432dup, NC_000002.12:g.227363428_227363432dup, NC_000002.12:g.227363427_227363432dup, NC_000002.11:g.228228142_228228148del, NC_000002.11:g.228228143_228228148del, NC_000002.11:g.228228144_228228148del, NC_000002.11:g.228228145_228228148del, NC_000002.11:g.228228146_228228148del, NC_000002.11:g.228228147_228228148del, NC_000002.11:g.228228148del, NC_000002.11:g.228228148dup, NC_000002.11:g.228228147_228228148dup, NC_000002.11:g.228228146_228228148dup, NC_000002.11:g.228228145_228228148dup, NC_000002.11:g.228228144_228228148dup, NC_000002.11:g.228228143_228228148dup, NG_051253.1:g.20885_20891del, NG_051253.1:g.20886_20891del, NG_051253.1:g.20887_20891del, NG_051253.1:g.20888_20891del, NG_051253.1:g.20889_20891del, NG_051253.1:g.20890_20891del, NG_051253.1:g.20891del, NG_051253.1:g.20891dup, NG_051253.1:g.20890_20891dup, NG_051253.1:g.20889_20891dup, NG_051253.1:g.20888_20891dup, NG_051253.1:g.20887_20891dup, NG_051253.1:g.20886_20891dup, NM_024795.4:c.*302_*308del, NM_024795.4:c.*303_*308del, NM_024795.4:c.*304_*308del, NM_024795.4:c.*305_*308del, NM_024795.4:c.*306_*308del, NM_024795.4:c.*307_*308del, NM_024795.4:c.*308del, NM_024795.4:c.*308dup, NM_024795.4:c.*307_*308dup, NM_024795.4:c.*306_*308dup, NM_024795.4:c.*305_*308dup, NM_024795.4:c.*304_*308dup, NM_024795.4:c.*303_*308dup, NM_024795.3:c.*302_*308del, NM_024795.3:c.*303_*308del, NM_024795.3:c.*304_*308del, NM_024795.3:c.*305_*308del, NM_024795.3:c.*306_*308del, NM_024795.3:c.*307_*308del, NM_024795.3:c.*308del, NM_024795.3:c.*308dup, NM_024795.3:c.*307_*308dup, NM_024795.3:c.*306_*308dup, NM_024795.3:c.*305_*308dup, NM_024795.3:c.*304_*308dup, NM_024795.3:c.*303_*308dup, XM_011511876.3:c.*302_*308del, XM_011511876.3:c.*303_*308del, XM_011511876.3:c.*304_*308del, XM_011511876.3:c.*305_*308del, XM_011511876.3:c.*306_*308del, XM_011511876.3:c.*307_*308del, XM_011511876.3:c.*308del, XM_011511876.3:c.*308dup, XM_011511876.3:c.*307_*308dup, XM_011511876.3:c.*306_*308dup, XM_011511876.3:c.*305_*308dup, XM_011511876.3:c.*304_*308dup, XM_011511876.3:c.*303_*308dup, XM_011511876.2:c.*302_*308del, XM_011511876.2:c.*303_*308del, XM_011511876.2:c.*304_*308del, XM_011511876.2:c.*305_*308del, XM_011511876.2:c.*306_*308del, XM_011511876.2:c.*307_*308del, XM_011511876.2:c.*308del, XM_011511876.2:c.*308dup, XM_011511876.2:c.*307_*308dup, XM_011511876.2:c.*306_*308dup, XM_011511876.2:c.*305_*308dup, XM_011511876.2:c.*304_*308dup, XM_011511876.2:c.*303_*308dup

Select item 148114621811.

rs1481146218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:227363431 (GRCh38)
2:228228147 (GRCh37)
Canonical SPDI:: NC_000002.12:227363430:A:C
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227363431A>C, NC_000002.11:g.228228147A>C, NG_051253.1:g.20876T>G, NM_024795.4:c.*293T>G, NM_024795.3:c.*293T>G, XM_011511876.3:c.*293T>G, XM_011511876.2:c.*293T>G

Select item 147994368112.

rs1479943681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:227363411 (GRCh38)
2:228228127 (GRCh37)
Canonical SPDI:: NC_000002.12:227363410:G:C
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000069/7 (GnomAD)
HGVS:: NC_000002.12:g.227363411G>C, NC_000002.11:g.228228127G>C, NG_051253.1:g.20896C>G, NM_024795.4:c.*313C>G, NM_024795.3:c.*313C>G, XM_011511876.3:c.*313C>G, XM_011511876.2:c.*313C>G

Select item 147950366113.

rs1479503661 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:227362262 (GRCh38)
2:228226978 (GRCh37)
Canonical SPDI:: NC_000002.12:227362261:TT:
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.227362262_227362263del, NC_000002.11:g.228226978_228226979del, NG_051253.1:g.22044_22045del, NM_024795.4:c.*1461_*1462del, NM_024795.3:c.*1461_*1462del, XM_011511876.3:c.*1461_*1462del, XM_011511876.2:c.*1461_*1462del

Select item 147895543414.

rs1478955434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227362306 (GRCh38)
2:228227022 (GRCh37)
Canonical SPDI:: NC_000002.12:227362305:A:G
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.227362306A>G, NC_000002.11:g.228227022A>G, NG_051253.1:g.22001T>C, NM_024795.4:c.*1418T>C, NM_024795.3:c.*1418T>C, XM_011511876.3:c.*1418T>C, XM_011511876.2:c.*1418T>C

Select item 147892430715.

rs1478924307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227362591 (GRCh38)
2:228227307 (GRCh37)
Canonical SPDI:: NC_000002.12:227362590:T:C
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227362591T>C, NC_000002.11:g.228227307T>C, NG_051253.1:g.21716A>G, NM_024795.4:c.*1133A>G, NM_024795.3:c.*1133A>G, XM_011511876.3:c.*1133A>G, XM_011511876.2:c.*1133A>G

Select item 147601226716.

rs1476012267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227362806 (GRCh38)
2:228227522 (GRCh37)
Canonical SPDI:: NC_000002.12:227362805:T:C
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.227362806T>C, NC_000002.11:g.228227522T>C, NG_051253.1:g.21501A>G, NM_024795.4:c.*918A>G, NM_024795.3:c.*918A>G, XM_011511876.3:c.*918A>G, XM_011511876.2:c.*918A>G

Select item 147464132517.

rs1474641325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:227370920 (GRCh38)
2:228235636 (GRCh37)
Canonical SPDI:: NC_000002.12:227370919:T:A
Gene:: TM4SF20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.227370920T>A, NC_000002.11:g.228235636T>A, NG_051253.1:g.13387A>T, NM_024795.4:c.244A>T, NM_024795.3:c.244A>T, NG_082860.1:g.447T>A, XM_011511876.3:c.43A>T, XM_011511876.2:c.43A>T, XM_011511876.1:c.43A>T, NP_079071.2:p.Thr82Ser, XP_011510178.1:p.Thr15Ser

Select item 147042992618.

rs1470429926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:227363018 (GRCh38)
2:228227734 (GRCh37)
Canonical SPDI:: NC_000002.12:227363017:C:G
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_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.227363018C>G, NC_000002.11:g.228227734C>G, NG_051253.1:g.21289G>C, NM_024795.4:c.*706G>C, NM_024795.3:c.*706G>C, XM_011511876.3:c.*706G>C, XM_011511876.2:c.*706G>C

Select item 146862184419.

rs1468621844 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAT>- [Show Flanks]
Chromosome:: 2:227362295 (GRCh38)
2:228227011 (GRCh37)
Canonical SPDI:: NC_000002.12:227362291:AATGAAT:AAT
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.227362295_227362298del, NC_000002.11:g.228227011_228227014del, NG_051253.1:g.22012_22015del, NM_024795.4:c.*1429_*1432del, NM_024795.3:c.*1429_*1432del, XM_011511876.3:c.*1429_*1432del, XM_011511876.2:c.*1429_*1432del

Select item 146777765320.

rs1467777653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227363178 (GRCh38)
2:228227894 (GRCh37)
Canonical SPDI:: NC_000002.12:227363177:G:A
Gene:: TM4SF20 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.227363178G>A, NC_000002.11:g.228227894G>A, NG_051253.1:g.21129C>T, NM_024795.4:c.*546C>T, NM_024795.3:c.*546C>T, XM_011511876.3:c.*546C>T, XM_011511876.2:c.*546C>T

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