SNP Links for Nucleotide (Select 1142736479) - SNP

Links from Nucleotide

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Select item 14898262881.

rs1489826288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:56384355 (GRCh38)
2:56611490 (GRCh37)
Canonical SPDI:: NC_000002.12:56384354:A:G
Gene:: CCDC85A (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.56384355A>G, NC_000002.11:g.56611490A>G, XM_024452642.2:c.1674A>G, XM_024452642.1:c.1674A>G, NM_001080433.2:c.1662A>G, NM_001080433.1:c.1662A>G, NM_001348512.1:c.1761A>G, NM_001348513.1:c.1626A>G, NM_001348514.1:c.1527A>G, NM_001348515.1:c.1407A>G, NM_001348516.1:c.*40A>G, XP_024308410.1:p.Ter558Trp, NP_001073902.1:p.Ter554Trp, NP_001335441.1:p.Ter587Trp, NP_001335442.1:p.Ter542Trp, NP_001335443.1:p.Ter509Trp, NP_001335444.1:p.Ter469Trp

Select item 14889208812.

rs1488920881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:56385329 (GRCh38)
2:56612464 (GRCh37)
Canonical SPDI:: NC_000002.12:56385328:T:C
Gene:: CCDC85A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.56385329T>C, NC_000002.11:g.56612464T>C, XM_024452642.2:c.*974T>C, XM_024452642.1:c.*974T>C, NM_001080433.2:c.*974T>C, NM_001080433.1:c.*974T>C, NM_001348512.1:c.*974T>C, NM_001348513.1:c.*974T>C, NM_001348514.1:c.*974T>C, NM_001348515.1:c.*974T>C, NM_001348516.1:c.*1014T>C

Select item 14888669503.

rs1488866950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:56184376 (GRCh38)
2:56411511 (GRCh37)
Canonical SPDI:: NC_000002.12:56184375:G:A
Gene:: CCDC85A (Varview), LOC100129434 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56184376G>A, NC_000002.11:g.56411511G>A, XM_024452642.2:c.-249G>A, NM_001080433.2:c.-249G>A, NM_001080433.1:c.-249G>A, NM_001348512.1:c.-249G>A, NM_001348513.1:c.-249G>A, NM_001348514.1:c.-249G>A, NM_001348515.1:c.-249G>A, NM_001348516.1:c.-249G>A

Select item 14878480754.

rs1487848075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:56384268 (GRCh38)
2:56611403 (GRCh37)
Canonical SPDI:: NC_000002.12:56384267:T:A
Gene:: CCDC85A (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.56384268T>A, NC_000002.11:g.56611403T>A, XM_024452642.2:c.1587T>A, XM_024452642.1:c.1587T>A, NM_001080433.2:c.1575T>A, NM_001080433.1:c.1575T>A, NM_001348512.1:c.1674T>A, NM_001348513.1:c.1539T>A, NM_001348514.1:c.1440T>A, NM_001348515.1:c.1320T>A, NM_001348516.1:c.1243T>A, NP_001335445.1:p.Cys415Ser

Select item 14872806985.

rs1487280698 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 2:56384266 (GRCh38)
2:56611402 (GRCh37)
Canonical SPDI:: NC_000002.12:56384266:TT:TTTTTT
Gene:: CCDC85A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.56384268_56384269insTTTT, NC_000002.11:g.56611403_56611404insTTTT, XM_024452642.2:c.1587_1588insTTTT, XM_024452642.1:c.1587_1588insTTTT, NM_001080433.2:c.1575_1576insTTTT, NM_001080433.1:c.1575_1576insTTTT, NM_001348512.1:c.1674_1675insTTTT, NM_001348513.1:c.1539_1540insTTTT, NM_001348514.1:c.1440_1441insTTTT, NM_001348515.1:c.1320_1321insTTTT, NM_001348516.1:c.1243_1244insTTTT, XP_024308410.1:p.Val530fs, NP_001073902.1:p.Val526fs, NP_001335441.1:p.Val559fs, NP_001335442.1:p.Val514fs, NP_001335443.1:p.Val481fs, NP_001335444.1:p.Val441fs, NP_001335445.1:p.Cys415fs

Select item 14863296416.

rs1486329641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:56385251 (GRCh38)
2:56612386 (GRCh37)
Canonical SPDI:: NC_000002.12:56385250:C:T
Gene:: CCDC85A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56385251C>T, NC_000002.11:g.56612386C>T, XM_024452642.2:c.*896C>T, XM_024452642.1:c.*896C>T, NM_001080433.2:c.*896C>T, NM_001080433.1:c.*896C>T, NM_001348512.1:c.*896C>T, NM_001348513.1:c.*896C>T, NM_001348514.1:c.*896C>T, NM_001348515.1:c.*896C>T, NM_001348516.1:c.*936C>T

Select item 14860537127.

rs1486053712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:56385193 (GRCh38)
2:56612328 (GRCh37)
Canonical SPDI:: NC_000002.12:56385192:A:T
Gene:: CCDC85A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.56385193A>T, NC_000002.11:g.56612328A>T, XM_024452642.2:c.*838A>T, XM_024452642.1:c.*838A>T, NM_001080433.2:c.*838A>T, NM_001080433.1:c.*838A>T, NM_001348512.1:c.*838A>T, NM_001348513.1:c.*838A>T, NM_001348514.1:c.*838A>T, NM_001348515.1:c.*838A>T, NM_001348516.1:c.*878A>T

Select item 14859998918.

rs1485999891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:56385601 (GRCh38)
2:56612736 (GRCh37)
Canonical SPDI:: NC_000002.12:56385600:T:C
Gene:: CCDC85A (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=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56385601T>C, NC_000002.11:g.56612736T>C, XM_024452642.2:c.*1246T>C, XM_024452642.1:c.*1246T>C, NM_001080433.2:c.*1246T>C, NM_001080433.1:c.*1246T>C, NM_001348512.1:c.*1246T>C, NM_001348513.1:c.*1246T>C, NM_001348514.1:c.*1246T>C, NM_001348515.1:c.*1246T>C, NM_001348516.1:c.*1286T>C

Select item 14858487979.

rs1485848797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:56384320 (GRCh38)
2:56611455 (GRCh37)
Canonical SPDI:: NC_000002.12:56384319:C:A,NC_000002.12:56384319:C:T
Gene:: CCDC85A (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.56384320C>A, NC_000002.12:g.56384320C>T, NC_000002.11:g.56611455C>A, NC_000002.11:g.56611455C>T, XM_024452642.2:c.1639C>A, XM_024452642.2:c.1639C>T, XM_024452642.1:c.1639C>A, XM_024452642.1:c.1639C>T, NM_001080433.2:c.1627C>A, NM_001080433.2:c.1627C>T, NM_001080433.1:c.1627C>A, NM_001080433.1:c.1627C>T, NM_001348512.1:c.1726C>A, NM_001348512.1:c.1726C>T, NM_001348513.1:c.1591C>A, NM_001348513.1:c.1591C>T, NM_001348514.1:c.1492C>A, NM_001348514.1:c.1492C>T, NM_001348515.1:c.1372C>A, NM_001348515.1:c.1372C>T, NM_001348516.1:c.*5C>A, NM_001348516.1:c.*5C>T, XP_024308410.1:p.His547Asn, XP_024308410.1:p.His547Tyr, NP_001073902.1:p.His543Asn, NP_001073902.1:p.His543Tyr, NP_001335441.1:p.His576Asn, NP_001335441.1:p.His576Tyr, NP_001335442.1:p.His531Asn, NP_001335442.1:p.His531Tyr, NP_001335443.1:p.His498Asn, NP_001335443.1:p.His498Tyr, NP_001335444.1:p.His458Asn, NP_001335444.1:p.His458Tyr

Select item 148581921510.

rs1485819215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:56385415 (GRCh38)
2:56612550 (GRCh37)
Canonical SPDI:: NC_000002.12:56385414:C:T
Gene:: CCDC85A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56385415C>T, NC_000002.11:g.56612550C>T, XM_024452642.2:c.*1060C>T, XM_024452642.1:c.*1060C>T, NM_001080433.2:c.*1060C>T, NM_001080433.1:c.*1060C>T, NM_001348512.1:c.*1060C>T, NM_001348513.1:c.*1060C>T, NM_001348514.1:c.*1060C>T, NM_001348515.1:c.*1060C>T, NM_001348516.1:c.*1100C>T

Select item 148511221411.

rs1485112214 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:56184164 (GRCh38)
2:56411299 (GRCh37)
Canonical SPDI:: NC_000002.12:56184163:A:
Gene:: CCDC85A (Varview), LOC100129434 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.56184164del, NC_000002.11:g.56411299del, XM_024452642.2:c.-461del, NM_001080433.2:c.-461del, NM_001080433.1:c.-461del, NM_001348512.1:c.-461del, NM_001348513.1:c.-461del, NM_001348514.1:c.-461del, NM_001348515.1:c.-461del, NM_001348516.1:c.-461del

Select item 148369347412.

rs1483693474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:56384552 (GRCh38)
2:56611687 (GRCh37)
Canonical SPDI:: NC_000002.12:56384551:T:C
Gene:: CCDC85A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.56384552T>C, NC_000002.11:g.56611687T>C, XM_024452642.2:c.*197T>C, XM_024452642.1:c.*197T>C, NM_001080433.2:c.*197T>C, NM_001080433.1:c.*197T>C, NM_001348512.1:c.*197T>C, NM_001348513.1:c.*197T>C, NM_001348514.1:c.*197T>C, NM_001348515.1:c.*197T>C, NM_001348516.1:c.*237T>C

Select item 148351356713.

rs1483513567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:56192984 (GRCh38)
2:56420119 (GRCh37)
Canonical SPDI:: NC_000002.12:56192983:C:T
Gene:: CCDC85A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.56192984C>T, NC_000002.11:g.56420119C>T, XM_024452642.2:c.697C>T, XM_024452642.1:c.697C>T, NM_001080433.2:c.784C>T, NM_001080433.1:c.784C>T, NM_001348512.1:c.784C>T, NM_001348513.1:c.784C>T, NM_001348514.1:c.784C>T, NM_001348515.1:c.784C>T, NM_001348516.1:c.784C>T, XP_024308410.1:p.Pro233Ser, NP_001073902.1:p.Pro262Ser, NP_001335441.1:p.Pro262Ser, NP_001335442.1:p.Pro262Ser, NP_001335443.1:p.Pro262Ser, NP_001335444.1:p.Pro262Ser, NP_001335445.1:p.Pro262Ser

Select item 148294565414.

rs1482945654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:56192875 (GRCh38)
2:56420010 (GRCh37)
Canonical SPDI:: NC_000002.12:56192874:C:T
Gene:: CCDC85A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.56192875C>T, NC_000002.11:g.56420010C>T, XM_024452642.2:c.588C>T, XM_024452642.1:c.588C>T, NM_001080433.2:c.675C>T, NM_001080433.1:c.675C>T, NM_001348512.1:c.675C>T, NM_001348513.1:c.675C>T, NM_001348514.1:c.675C>T, NM_001348515.1:c.675C>T, NM_001348516.1:c.675C>T

Select item 148291275515.

rs1482912755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:56192641 (GRCh38)
2:56419776 (GRCh37)
Canonical SPDI:: NC_000002.12:56192640:G:A
Gene:: CCDC85A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.56192641G>A, NC_000002.11:g.56419776G>A, XM_024452642.2:c.354G>A, XM_024452642.1:c.354G>A, NM_001080433.2:c.441G>A, NM_001080433.1:c.441G>A, NM_001348512.1:c.441G>A, NM_001348513.1:c.441G>A, NM_001348514.1:c.441G>A, NM_001348515.1:c.441G>A, NM_001348516.1:c.441G>A

Select item 148288437016.

rs1482884370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:56184747 (GRCh38)
2:56411882 (GRCh37)
Canonical SPDI:: NC_000002.12:56184746:C:A,NC_000002.12:56184746:C:T
Gene:: CCDC85A (Varview), LOC100129434 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000036/5 (GnomAD_exomes)
A=0.000625/4 (1000Genomes)
HGVS:: NC_000002.12:g.56184747C>A, NC_000002.12:g.56184747C>T, NC_000002.11:g.56411882C>A, NC_000002.11:g.56411882C>T, XM_024452642.2:c.123C>A, XM_024452642.2:c.123C>T, XM_024452642.1:c.123C>A, XM_024452642.1:c.123C>T, NM_001080433.2:c.123C>A, NM_001080433.2:c.123C>T, NM_001080433.1:c.123C>A, NM_001080433.1:c.123C>T, NM_001348512.1:c.123C>A, NM_001348512.1:c.123C>T, NM_001348513.1:c.123C>A, NM_001348513.1:c.123C>T, NM_001348514.1:c.123C>A, NM_001348514.1:c.123C>T, NM_001348515.1:c.123C>A, NM_001348515.1:c.123C>T, NM_001348516.1:c.123C>A, NM_001348516.1:c.123C>T, XP_024308410.1:p.Asp41Glu, NP_001073902.1:p.Asp41Glu, NP_001335441.1:p.Asp41Glu, NP_001335442.1:p.Asp41Glu, NP_001335443.1:p.Asp41Glu, NP_001335444.1:p.Asp41Glu, NP_001335445.1:p.Asp41Glu

Select item 148172973017.

rs1481729730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:56385519 (GRCh38)
2:56612654 (GRCh37)
Canonical SPDI:: NC_000002.12:56385518:G:A
Gene:: CCDC85A (Varview)
Functional Consequence:: 3_prime_UTR_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_000002.12:g.56385519G>A, NC_000002.11:g.56612654G>A, XM_024452642.2:c.*1164G>A, XM_024452642.1:c.*1164G>A, NM_001080433.2:c.*1164G>A, NM_001080433.1:c.*1164G>A, NM_001348512.1:c.*1164G>A, NM_001348513.1:c.*1164G>A, NM_001348514.1:c.*1164G>A, NM_001348515.1:c.*1164G>A, NM_001348516.1:c.*1204G>A

Select item 148107642518.

rs1481076425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:56193328 (GRCh38)
2:56420463 (GRCh37)
Canonical SPDI:: NC_000002.12:56193327:A:C
Gene:: CCDC85A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.56193328A>C, NC_000002.11:g.56420463A>C, XM_024452642.2:c.1041A>C, XM_024452642.1:c.1041A>C, NM_001080433.2:c.1128A>C, NM_001080433.1:c.1128A>C, NM_001348512.1:c.1128A>C, NM_001348513.1:c.1128A>C, NM_001348514.1:c.1128A>C, NM_001348515.1:c.1128A>C, NM_001348516.1:c.1128A>C

Select item 148104330719.

rs1481043307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:56375831 (GRCh38)
2:56602966 (GRCh37)
Canonical SPDI:: NC_000002.12:56375830:T:C
Gene:: CCDC85A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.56375831T>C, NC_000002.11:g.56602966T>C, XM_024452642.2:c.1381T>C, XM_024452642.1:c.1381T>C, NM_001080433.2:c.1468T>C, NM_001080433.1:c.1468T>C, NM_001348512.1:c.1468T>C, NM_001348513.1:c.1333T>C, NM_001348514.1:c.1333T>C, XP_024308410.1:p.Ser461Pro, NP_001073902.1:p.Ser490Pro, NP_001335441.1:p.Ser490Pro, NP_001335442.1:p.Ser445Pro, NP_001335443.1:p.Ser445Pro

Select item 147901730720.

rs1479017307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:56192788 (GRCh38)
2:56419923 (GRCh37)
Canonical SPDI:: NC_000002.12:56192787:C:A,NC_000002.12:56192787:C:T
Gene:: CCDC85A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.56192788C>A, NC_000002.12:g.56192788C>T, NC_000002.11:g.56419923C>A, NC_000002.11:g.56419923C>T, XM_024452642.2:c.501C>A, XM_024452642.2:c.501C>T, XM_024452642.1:c.501C>A, XM_024452642.1:c.501C>T, NM_001080433.2:c.588C>A, NM_001080433.2:c.588C>T, NM_001080433.1:c.588C>A, NM_001080433.1:c.588C>T, NM_001348512.1:c.588C>A, NM_001348512.1:c.588C>T, NM_001348513.1:c.588C>A, NM_001348513.1:c.588C>T, NM_001348514.1:c.588C>A, NM_001348514.1:c.588C>T, NM_001348515.1:c.588C>A, NM_001348515.1:c.588C>T, NM_001348516.1:c.588C>A, NM_001348516.1:c.588C>T

dbSNP

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