SNP Links for Gene (Select 160857) - SNP

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Select item 14915438501.

rs1491543850 has merged into rs146757703 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 13:43855379 (GRCh38)
13:44429515 (GRCh37)
Canonical SPDI:: NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
-=0.1002/386 (ALSPAC)
CA=0.4952/2480 (1000Genomes)
HGVS:: NC_000013.11:g.43855365AC[7], NC_000013.11:g.43855365AC[8], NC_000013.11:g.43855365AC[9], NC_000013.11:g.43855365AC[10], NC_000013.11:g.43855365AC[11], NC_000013.11:g.43855365AC[12], NC_000013.11:g.43855365AC[13], NC_000013.11:g.43855365AC[14], NC_000013.11:g.43855365AC[16], NC_000013.11:g.43855365AC[17], NC_000013.11:g.43855365AC[18], NC_000013.11:g.43855365AC[19], NC_000013.11:g.43855365AC[20], NC_000013.10:g.44429501AC[7], NC_000013.10:g.44429501AC[8], NC_000013.10:g.44429501AC[9], NC_000013.10:g.44429501AC[10], NC_000013.10:g.44429501AC[11], NC_000013.10:g.44429501AC[12], NC_000013.10:g.44429501AC[13], NC_000013.10:g.44429501AC[14], NC_000013.10:g.44429501AC[16], NC_000013.10:g.44429501AC[17], NC_000013.10:g.44429501AC[18], NC_000013.10:g.44429501AC[19], NC_000013.10:g.44429501AC[20]

Select item 14914660032.

rs1491466003 has merged into rs55637761 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 13:43863690 (GRCh38)
13:44437826 (GRCh37)
Canonical SPDI:: NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:43863675:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: CCDC122 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTG=0./0 (ALFA)
TGTG=0.1466/734 (1000Genomes)
-=0.4829/1861 (ALSPAC)
HGVS:: NC_000013.11:g.43863676TG[7], NC_000013.11:g.43863676TG[8], NC_000013.11:g.43863676TG[9], NC_000013.11:g.43863676TG[10], NC_000013.11:g.43863676TG[11], NC_000013.11:g.43863676TG[12], NC_000013.11:g.43863676TG[13], NC_000013.11:g.43863676TG[15], NC_000013.11:g.43863676TG[16], NC_000013.11:g.43863676TG[17], NC_000013.11:g.43863676TG[18], NC_000013.11:g.43863676TG[19], NC_000013.10:g.44437812TG[7], NC_000013.10:g.44437812TG[8], NC_000013.10:g.44437812TG[9], NC_000013.10:g.44437812TG[10], NC_000013.10:g.44437812TG[11], NC_000013.10:g.44437812TG[12], NC_000013.10:g.44437812TG[13], NC_000013.10:g.44437812TG[15], NC_000013.10:g.44437812TG[16], NC_000013.10:g.44437812TG[17], NC_000013.10:g.44437812TG[18], NC_000013.10:g.44437812TG[19]

Select item 14913855023.

rs1491385502 has merged into rs1555391082 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 13:43855396 (GRCh38)
13:44429532 (GRCh37)
Canonical SPDI:: NC_000013.11:43855393:CCCC:CC,NC_000013.11:43855393:CCCC:CCCCCC
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.000031/4 (GnomAD)
-=0.000145/2 (TOMMO)
-=0.001638/3 (Korea1K)
HGVS:: NC_000013.11:g.43855396_43855397del, NC_000013.11:g.43855396_43855397dup, NC_000013.10:g.44429532_44429533del, NC_000013.10:g.44429532_44429533dup

Select item 14913525564.

rs1491352556 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 13:43855363 (GRCh38)
13:44429499 (GRCh37)
Canonical SPDI:: NC_000013.11:43855362:CC:
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000013.11:g.43855363_43855364del, NC_000013.10:g.44429499_44429500del

Select item 14913057355.

rs1491305735 has merged into rs11323501 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 13:43832143 (GRCh38)
13:44406279 (GRCh37)
Canonical SPDI:: NC_000013.11:43832129:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:43832129:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:43832129:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:43832129:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:43832129:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:43832129:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:43832129:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0727/280 (ALSPAC)
A=0.2/8 (GENOME_DK)
A=0.2901/1453 (1000Genomes)
HGVS:: NC_000013.11:g.43832143_43832146del, NC_000013.11:g.43832144_43832146del, NC_000013.11:g.43832145_43832146del, NC_000013.11:g.43832146del, NC_000013.11:g.43832146dup, NC_000013.11:g.43832145_43832146dup, NC_000013.11:g.43832142_43832146dup, NC_000013.10:g.44406279_44406282del, NC_000013.10:g.44406280_44406282del, NC_000013.10:g.44406281_44406282del, NC_000013.10:g.44406282del, NC_000013.10:g.44406282dup, NC_000013.10:g.44406281_44406282dup, NC_000013.10:g.44406278_44406282dup

Select item 14912094336.

rs1491209433 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:43832129 (GRCh38)
13:44406265 (GRCh37)
Canonical SPDI:: NC_000013.11:43832128:CA:
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000013.11:g.43832129_43832130del, NC_000013.10:g.44406265_44406266del

Select item 14911856707.

rs1491185670 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:43855682 (GRCh38)
13:44429818 (GRCh37)
Canonical SPDI:: NC_000013.11:43855680:ATA:A
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001602/19 (ALFA)
-=0.000216/3 (TOMMO)
-=0.002305/610 (TOPMED)
-=0.002433/291 (GnomAD)
HGVS:: NC_000013.11:g.43855682_43855683del, NC_000013.10:g.44429818_44429819del

Select item 14911261338.

rs1491126133 has merged into rs146757703 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 13:43855379 (GRCh38)
13:44429515 (GRCh37)
Canonical SPDI:: NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000013.11:43855363:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
-=0.1002/386 (ALSPAC)
CA=0.4952/2480 (1000Genomes)
HGVS:: NC_000013.11:g.43855365AC[7], NC_000013.11:g.43855365AC[8], NC_000013.11:g.43855365AC[9], NC_000013.11:g.43855365AC[10], NC_000013.11:g.43855365AC[11], NC_000013.11:g.43855365AC[12], NC_000013.11:g.43855365AC[13], NC_000013.11:g.43855365AC[14], NC_000013.11:g.43855365AC[16], NC_000013.11:g.43855365AC[17], NC_000013.11:g.43855365AC[18], NC_000013.11:g.43855365AC[19], NC_000013.11:g.43855365AC[20], NC_000013.10:g.44429501AC[7], NC_000013.10:g.44429501AC[8], NC_000013.10:g.44429501AC[9], NC_000013.10:g.44429501AC[10], NC_000013.10:g.44429501AC[11], NC_000013.10:g.44429501AC[12], NC_000013.10:g.44429501AC[13], NC_000013.10:g.44429501AC[14], NC_000013.10:g.44429501AC[16], NC_000013.10:g.44429501AC[17], NC_000013.10:g.44429501AC[18], NC_000013.10:g.44429501AC[19], NC_000013.10:g.44429501AC[20]

Select item 14910026439.

rs1491002643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:43837579 (GRCh38)
13:44411715 (GRCh37)
Canonical SPDI:: NC_000013.11:43837578:A:C,NC_000013.11:43837578:A:G
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.43837579A>C, NC_000013.11:g.43837579A>G, NC_000013.10:g.44411715A>C, NC_000013.10:g.44411715A>G

Select item 149097702310.

rs1490977023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:43879825 (GRCh38)
13:44453961 (GRCh37)
Canonical SPDI:: NC_000013.11:43879824:G:A
Gene:: LACC1 (Varview), CCDC122 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000013.11:g.43879825G>A, NC_000013.10:g.44453961G>A, NG_053160.1:g.5992G>A

Select item 149090640911.

rs1490906409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:43879510 (GRCh38)
13:44453646 (GRCh37)
Canonical SPDI:: NC_000013.11:43879509:C:G
Gene:: LACC1 (Varview), CCDC122 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_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.43879510C>G, NC_000013.10:g.44453646C>G, NG_053160.1:g.5677C>G, NM_001128303.2:c.-259C>G, NM_001128303.1:c.-259C>G, XM_017020397.3:c.-292G>C, XM_017020397.2:c.-292G>C, XM_017020397.1:c.-292G>C, XM_024449319.2:c.-259C>G, NM_001350617.2:c.-386G>C, NM_001350617.1:c.-386G>C, XM_017020398.2:c.-292G>C, XM_017020398.1:c.-292G>C, NM_001350641.1:c.-472C>G, NM_001350638.1:c.-463C>G, XM_047430102.1:c.-463C>G, NM_001350640.1:c.-268C>G, NM_001350645.1:c.-981C>G, XM_047430104.1:c.-259C>G, NM_001350644.1:c.-777C>G, XM_047430106.1:c.-463C>G, XM_047430114.1:c.-292G>C

Select item 149088275712.

rs1490882757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:43863101 (GRCh38)
13:44437237 (GRCh37)
Canonical SPDI:: NC_000013.11:43863100:A:T
Gene:: CCDC122 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.43863101A>T, NC_000013.10:g.44437237A>T

Select item 149085719413.

rs1490857194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:43846165 (GRCh38)
13:44420301 (GRCh37)
Canonical SPDI:: NC_000013.11:43846164:C:A
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.43846165C>A, NC_000013.10:g.44420301C>A

Select item 149082843914.

rs1490828439 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 13:43830207 (GRCh38)
13:44404343 (GRCh37)
Canonical SPDI:: NC_000013.11:43830206:C:
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.43830207del, NC_000013.10:g.44404343del

Select item 149079627415.

rs1490796274 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 13:43855747 (GRCh38)
13:44429883 (GRCh37)
Canonical SPDI:: NC_000013.11:43855742:TTATTAT:TTAT
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAT=0.000142/2 (ALFA)
-=0.00005/7 (GnomAD)
-=0.00006/16 (TOPMED)
HGVS:: NC_000013.11:g.43855744TAT[1], NC_000013.10:g.44429880TAT[1]

Select item 149076132616.

rs1490761326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:43853328 (GRCh38)
13:44427464 (GRCh37)
Canonical SPDI:: NC_000013.11:43853327:A:C
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.43853328A>C, NC_000013.10:g.44427464A>C

Select item 149068417117.

rs1490684171 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTT>- [Show Flanks]
Chromosome:: 13:43871392 (GRCh38)
13:44445528 (GRCh37)
Canonical SPDI:: NC_000013.11:43871387:ACTTACTT:ACTT
Gene:: CCDC122 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACTTACTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.43871388ACTT[1], NC_000013.10:g.44445524ACTT[1]

Select item 149061261118.

rs1490612611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:43829621 (GRCh38)
13:44403757 (GRCh37)
Canonical SPDI:: NC_000013.11:43829620:C:T
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.43829621C>T, NC_000013.10:g.44403757C>T

Select item 149054144819.

rs1490541448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:43873410 (GRCh38)
13:44447546 (GRCh37)
Canonical SPDI:: NC_000013.11:43873409:C:G
Gene:: CCDC122 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.43873410C>G, NC_000013.10:g.44447546C>G

Select item 149052702620.

rs1490527026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:43872065 (GRCh38)
13:44446201 (GRCh37)
Canonical SPDI:: NC_000013.11:43872064:C:A
Gene:: CCDC122 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.43872065C>A, NC_000013.10:g.44446201C>A

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dbSNP

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Clinical Significance

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