SNP Links for Gene (Select 387914) - SNP

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Select item 14915255011.

rs1491525501 has merged into rs57979033 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 13:26049878 (GRCh38)
13:26624016 (GRCh37)
Canonical SPDI:: NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:26049863:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: SHISA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000013.11:g.26049864AC[7], NC_000013.11:g.26049864AC[8], NC_000013.11:g.26049864AC[9], NC_000013.11:g.26049864AC[10], NC_000013.11:g.26049864AC[11], NC_000013.11:g.26049864AC[12], NC_000013.11:g.26049864AC[13], NC_000013.11:g.26049864AC[14], NC_000013.11:g.26049864AC[15], NC_000013.11:g.26049864AC[16], NC_000013.11:g.26049864AC[17], NC_000013.11:g.26049864AC[18], NC_000013.11:g.26049864AC[20], NC_000013.11:g.26049864AC[21], NC_000013.11:g.26049864AC[22], NC_000013.11:g.26049864AC[23], NC_000013.11:g.26049864AC[24], NC_000013.11:g.26049864AC[25], NC_000013.11:g.26049864AC[26], NC_000013.11:g.26049864AC[27], NC_000013.11:g.26049864AC[28], NC_000013.11:g.26049864AC[29], NC_000013.11:g.26049864AC[30], NC_000013.11:g.26049864AC[31], NC_000013.11:g.26049864AC[32], NC_000013.11:g.26049864AC[33], NC_000013.11:g.26049864AC[34], NC_000013.11:g.26049864AC[35], NC_000013.10:g.26624002AC[7], NC_000013.10:g.26624002AC[8], NC_000013.10:g.26624002AC[9], NC_000013.10:g.26624002AC[10], NC_000013.10:g.26624002AC[11], NC_000013.10:g.26624002AC[12], NC_000013.10:g.26624002AC[13], NC_000013.10:g.26624002AC[14], NC_000013.10:g.26624002AC[15], NC_000013.10:g.26624002AC[16], NC_000013.10:g.26624002AC[17], NC_000013.10:g.26624002AC[18], NC_000013.10:g.26624002AC[20], NC_000013.10:g.26624002AC[21], NC_000013.10:g.26624002AC[22], NC_000013.10:g.26624002AC[23], NC_000013.10:g.26624002AC[24], NC_000013.10:g.26624002AC[25], NC_000013.10:g.26624002AC[26], NC_000013.10:g.26624002AC[27], NC_000013.10:g.26624002AC[28], NC_000013.10:g.26624002AC[29], NC_000013.10:g.26624002AC[30], NC_000013.10:g.26624002AC[31], NC_000013.10:g.26624002AC[32], NC_000013.10:g.26624002AC[33], NC_000013.10:g.26624002AC[34], NC_000013.10:g.26624002AC[35]

Select item 14911487632.

rs1491148763 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCACACACAC [Show Flanks]
Chromosome:: 13:26049864 (GRCh38)
13:26624003 (GRCh37)
Canonical SPDI:: NC_000013.11:26049864:CACACACAC:CACACACACCCACACACAC
Gene:: SHISA2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000013.11:g.26049865_26049873CA[4]CCCACACACAC[1], NC_000013.10:g.26624003_26624011CA[4]CCCACACACAC[1]

Select item 14910486153.

rs1491048615 has merged into rs542144842 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 13:26052093 (GRCh38)
13:26626231 (GRCh37)
Canonical SPDI:: NC_000013.11:26052088:CCCCCCC:CCCC,NC_000013.11:26052088:CCCCCCC:CCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: SHISA2 (Varview), LINC00415 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.2017/121 (NorthernSweden)
C=0.2846/1270 (Estonian)
C=0.3039/1522 (1000Genomes)
C=0.325/13 (GENOME_DK)
HGVS:: NC_000013.11:g.26052093_26052095del, NC_000013.11:g.26052094_26052095del, NC_000013.11:g.26052095del, NC_000013.11:g.26052095dup, NC_000013.11:g.26052094_26052095dup, NC_000013.11:g.26052093_26052095dup, NC_000013.11:g.26052092_26052095dup, NC_000013.11:g.26052095_26052096insCCCCCCCCC, NC_000013.11:g.26052095_26052096insCCCCCCCCCC, NC_000013.11:g.26052095_26052096insCCCCCCCCCCC, NC_000013.11:g.26052095_26052096insCCCCCCCCCCCC, NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCC, NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCC, NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCC, NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCCCCCC, NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCCCCCCC, NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCCCCCCCCC, NC_000013.10:g.26626231_26626233del, NC_000013.10:g.26626232_26626233del, NC_000013.10:g.26626233del, NC_000013.10:g.26626233dup, NC_000013.10:g.26626232_26626233dup, NC_000013.10:g.26626231_26626233dup, NC_000013.10:g.26626230_26626233dup, NC_000013.10:g.26626233_26626234insCCCCCCCCC, NC_000013.10:g.26626233_26626234insCCCCCCCCCC, NC_000013.10:g.26626233_26626234insCCCCCCCCCCC, NC_000013.10:g.26626233_26626234insCCCCCCCCCCCC, NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCC, NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCC, NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCC, NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCCCCCC, NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCCCCCCC, NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCCCCCCCCC

Select item 14908878714.

rs1490887871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:26051457 (GRCh38)
13:26625595 (GRCh37)
Canonical SPDI:: NC_000013.11:26051456:G:C
Gene:: SHISA2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.26051457G>C, NC_000013.10:g.26625595G>C, NM_001007538.2:c.-482C>G

Select item 14906360075.

rs1490636007 [Homo sapiens]

Variant type:: DEL
Alleles:: TAAAAAAAAA>- [Show Flanks]
Chromosome:: 13:26046082 (GRCh38)
13:26620220 (GRCh37)
Canonical SPDI:: NC_000013.11:26046081:TAAAAAAAAA:
Gene:: SHISA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00005/4 (GnomAD)
HGVS:: NC_000013.11:g.26046082_26046091del, NC_000013.10:g.26620220_26620229del, NM_001007538.2:c.*422_*431del, NM_001007538.1:c.*422_*431del

Select item 14905999046.

rs1490599904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:26044951 (GRCh38)
13:26619089 (GRCh37)
Canonical SPDI:: NC_000013.11:26044950:G:A,NC_000013.11:26044950:G:C
Gene:: SHISA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.26044951G>A, NC_000013.11:g.26044951G>C, NC_000013.10:g.26619089G>A, NC_000013.10:g.26619089G>C, NM_001007538.2:c.*1562C>T, NM_001007538.2:c.*1562C>G, NM_001007538.1:c.*1562C>T, NM_001007538.1:c.*1562C>G

Select item 14896646577.

rs1489664657 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14895229438.

rs1489522943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:26050220 (GRCh38)
13:26624358 (GRCh37)
Canonical SPDI:: NC_000013.11:26050219:C:T
Gene:: SHISA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.26050220C>T, NC_000013.10:g.26624358C>T

Select item 14894286619.

rs1489428661 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCTCGC>- [Show Flanks]
Chromosome:: 13:26051980 (GRCh38)
13:26626118 (GRCh37)
Canonical SPDI:: NC_000013.11:26051978:CGCCTCGC:C
Gene:: SHISA2 (Varview), LINC00415 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.00031/2 (1000Genomes)
-=0.00244/1 (NorthernSweden)
-=0.00662/134 (GnomAD)
HGVS:: NC_000013.11:g.26051980_26051986del, NC_000013.10:g.26626118_26626124del, NM_001007538.2:c.-1010_-1004del

Select item 148891911510.

rs1488919115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:26046681 (GRCh38)
13:26620819 (GRCh37)
Canonical SPDI:: NC_000013.11:26046680:C:A,NC_000013.11:26046680:C:T
Gene:: SHISA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
T=0.000566/9 (TOMMO)
HGVS:: NC_000013.11:g.26046681C>A, NC_000013.11:g.26046681C>T, NC_000013.10:g.26620819C>A, NC_000013.10:g.26620819C>T, NM_001007538.2:c.720G>T, NM_001007538.2:c.720G>A, NM_001007538.1:c.720G>T, NM_001007538.1:c.720G>A

Select item 148881807911.

rs1488818079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:26046819 (GRCh38)
13:26620957 (GRCh37)
Canonical SPDI:: NC_000013.11:26046818:C:T
Gene:: SHISA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.26046819C>T, NC_000013.10:g.26620957C>T, NM_001007538.2:c.582G>A, NM_001007538.1:c.582G>A

Select item 148815358512.

rs1488153585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:26049251 (GRCh38)
13:26623389 (GRCh37)
Canonical SPDI:: NC_000013.11:26049250:G:A
Gene:: SHISA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.26049251G>A, NC_000013.10:g.26623389G>A

Select item 148793551813.

rs1487935518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:26046940 (GRCh38)
13:26621078 (GRCh37)
Canonical SPDI:: NC_000013.11:26046939:G:A
Gene:: SHISA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.26046940G>A, NC_000013.10:g.26621078G>A, NM_001007538.2:c.461C>T, NM_001007538.1:c.461C>T, NP_001007539.1:p.Ala154Val

Select item 148731478014.

rs1487314780 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTTA>- [Show Flanks]
Chromosome:: 13:26044847 (GRCh38)
13:26618985 (GRCh37)
Canonical SPDI:: NC_000013.11:26044845:AAGTTA:A
Gene:: SHISA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.26044847_26044851del, NC_000013.10:g.26618985_26618989del, NM_001007538.2:c.*1663_*1667del, NM_001007538.1:c.*1663_*1667del

Select item 148724240115.

rs1487242401 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>C
Chromosome:: no mapping
Canonical SPDI:

Select item 148715320316.

rs1487153203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:26044494 (GRCh38)
13:26618632 (GRCh37)
Canonical SPDI:: NC_000013.11:26044493:C:G
Gene:: SHISA2 (Varview)
Functional Consequence:: 500B_downstream_variant,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)
HGVS:: NC_000013.11:g.26044494C>G, NC_000013.10:g.26618632C>G

Select item 148713842617.

rs1487138426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:26051166 (GRCh38)
13:26625304 (GRCh37)
Canonical SPDI:: NC_000013.11:26051165:C:T
Gene:: SHISA2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.26051166C>T, NC_000013.10:g.26625304C>T, NM_001007538.2:c.-191G>A

Select item 148686307518.

rs1486863075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:26046969 (GRCh38)
13:26621107 (GRCh37)
Canonical SPDI:: NC_000013.11:26046968:C:T
Gene:: SHISA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.26046969C>T, NC_000013.10:g.26621107C>T, NM_001007538.2:c.432G>A, NM_001007538.1:c.432G>A

Select item 148660304419.

rs1486603044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:26047971 (GRCh38)
13:26622109 (GRCh37)
Canonical SPDI:: NC_000013.11:26047970:A:G
Gene:: SHISA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.26047971A>G, NC_000013.10:g.26622109A>G

Select item 148627158120.

rs1486271581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:26050827 (GRCh38)
13:26624965 (GRCh37)
Canonical SPDI:: NC_000013.11:26050826:A:C
Gene:: SHISA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000013.11:g.26050827A>C, NC_000013.10:g.26624965A>C, NM_001007538.2:c.149T>G, NM_001007538.1:c.149T>G, NP_001007539.1:p.Ile50Ser

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