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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs66463289

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:23153693-23153714 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(T)13 / del(T)11 / del(T)10 / d…

del(T)13 / del(T)11 / del(T)10 / del(T)9 / del(T)8 / del(T)7 / del(T)5 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)6 / dup(T)7 / dup(T)8 / dup(T)9 / dup(T)10

Variation Type
Indel Insertion and Deletion
Frequency
del(T)9=0.000015 (4/264690, TOPMED)
dupTT=0.1197 (1170/9778, ALFA)
(T)22=0.45 (18/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RAB36 : Intron Variant
RSPH14 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 9778 TTTTTTTTTTTTTTTTTTTTTT=0.8663 TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0031, TTTTTTTTTTTTTTTTTTTTTTTT=0.1197, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0038, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0057, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0005 0.837077 0.070124 0.092799 32
European Sub 8940 TTTTTTTTTTTTTTTTTTTTTT=0.8541 TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0034, TTTTTTTTTTTTTTTTTTTTTTTT=0.1305, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0041, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0063, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0010, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0006 0.822053 0.076888 0.101059 32
African Sub 416 TTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 16 TTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 400 TTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 22 TTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 18 TTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 4 TTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 40 TTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 172 TTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 26 TTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 162 TTTTTTTTTTTTTTTTTTTTTT=0.981 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.019, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 0.962963 0.0 0.037037 0


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 (T)22=0.999985 del(T)9=0.000015
Allele Frequency Aggregator Total Global 9778 (T)22=0.8663 del(T)13=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0031, dupTT=0.1197, dupTTT=0.0057, dup(T)4=0.0038, dup(T)6=0.0009, dup(T)9=0.0005
Allele Frequency Aggregator European Sub 8940 (T)22=0.8541 del(T)13=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0034, dupTT=0.1305, dupTTT=0.0063, dup(T)4=0.0041, dup(T)6=0.0010, dup(T)9=0.0006
Allele Frequency Aggregator African Sub 416 (T)22=1.000 del(T)13=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)6=0.000, dup(T)9=0.000
Allele Frequency Aggregator Latin American 2 Sub 172 (T)22=1.000 del(T)13=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)6=0.000, dup(T)9=0.000
Allele Frequency Aggregator Other Sub 162 (T)22=0.981 del(T)13=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.019, dupTTT=0.000, dup(T)4=0.000, dup(T)6=0.000, dup(T)9=0.000
Allele Frequency Aggregator Latin American 1 Sub 40 (T)22=1.00 del(T)13=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)6=0.00, dup(T)9=0.00
Allele Frequency Aggregator South Asian Sub 26 (T)22=1.00 del(T)13=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)6=0.00, dup(T)9=0.00
Allele Frequency Aggregator Asian Sub 22 (T)22=1.00 del(T)13=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)6=0.00, dup(T)9=0.00
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupTT=0.55
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 22 NC_000022.11:g.23153702_23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153704_23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153705_23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153706_23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153707_23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153708_23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153710_23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153712_23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153713_23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153714del
GRCh38.p14 chr 22 NC_000022.11:g.23153714dup
GRCh38.p14 chr 22 NC_000022.11:g.23153713_23153714dup
GRCh38.p14 chr 22 NC_000022.11:g.23153712_23153714dup
GRCh38.p14 chr 22 NC_000022.11:g.23153711_23153714dup
GRCh38.p14 chr 22 NC_000022.11:g.23153710_23153714dup
GRCh38.p14 chr 22 NC_000022.11:g.23153709_23153714dup
GRCh38.p14 chr 22 NC_000022.11:g.23153708_23153714dup
GRCh38.p14 chr 22 NC_000022.11:g.23153707_23153714dup
GRCh38.p14 chr 22 NC_000022.11:g.23153706_23153714dup
GRCh38.p14 chr 22 NC_000022.11:g.23153705_23153714dup
GRCh37.p13 chr 22 NC_000022.10:g.23495889_23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495891_23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495892_23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495893_23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495894_23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495895_23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495897_23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495899_23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495900_23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495901del
GRCh37.p13 chr 22 NC_000022.10:g.23495901dup
GRCh37.p13 chr 22 NC_000022.10:g.23495900_23495901dup
GRCh37.p13 chr 22 NC_000022.10:g.23495899_23495901dup
GRCh37.p13 chr 22 NC_000022.10:g.23495898_23495901dup
GRCh37.p13 chr 22 NC_000022.10:g.23495897_23495901dup
GRCh37.p13 chr 22 NC_000022.10:g.23495896_23495901dup
GRCh37.p13 chr 22 NC_000022.10:g.23495895_23495901dup
GRCh37.p13 chr 22 NC_000022.10:g.23495894_23495901dup
GRCh37.p13 chr 22 NC_000022.10:g.23495893_23495901dup
GRCh37.p13 chr 22 NC_000022.10:g.23495892_23495901dup
Gene: RAB36, RAB36, member RAS oncogene family (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RAB36 transcript variant 1 NM_001349877.1:c.599+568_…

NM_001349877.1:c.599+568_599+580del

N/A Intron Variant
RAB36 transcript variant 2 NM_001349878.1:c.527+568_…

NM_001349878.1:c.527+568_527+580del

N/A Intron Variant
RAB36 transcript variant 3 NM_004914.5:c.329+568_329…

NM_004914.5:c.329+568_329+580del

N/A Intron Variant
RAB36 transcript variant 4 NR_146295.3:n. N/A Intron Variant
RAB36 transcript variant X1 XM_006724381.5:c.599+568_…

XM_006724381.5:c.599+568_599+580del

N/A Intron Variant
RAB36 transcript variant X2 XM_011530544.4:c.599+568_…

XM_011530544.4:c.599+568_599+580del

N/A Intron Variant
RAB36 transcript variant X4 XM_011530545.3:c.599+568_…

XM_011530545.3:c.599+568_599+580del

N/A Intron Variant
RAB36 transcript variant X5 XM_011530546.3:c.599+568_…

XM_011530546.3:c.599+568_599+580del

N/A Intron Variant
RAB36 transcript variant X7 XM_011530547.3:c.446+568_…

XM_011530547.3:c.446+568_446+580del

N/A Intron Variant
RAB36 transcript variant X13 XM_011530550.3:c.599+568_…

XM_011530550.3:c.599+568_599+580del

N/A Intron Variant
RAB36 transcript variant X3 XM_017029104.2:c.518+568_…

XM_017029104.2:c.518+568_518+580del

N/A Intron Variant
RAB36 transcript variant X8 XM_017029105.2:c.446+568_…

XM_017029105.2:c.446+568_446+580del

N/A Intron Variant
RAB36 transcript variant X12 XM_017029107.2:c.280+568_…

XM_017029107.2:c.280+568_280+580del

N/A Intron Variant
RAB36 transcript variant X6 XM_047441618.1:c.518+568_…

XM_047441618.1:c.518+568_518+580del

N/A Intron Variant
RAB36 transcript variant X9 XM_047441619.1:c.599+568_…

XM_047441619.1:c.599+568_599+580del

N/A Intron Variant
RAB36 transcript variant X10 XM_047441620.1:c.599+568_…

XM_047441620.1:c.599+568_599+580del

N/A Intron Variant
RAB36 transcript variant X11 XM_047441621.1:c.280+568_…

XM_047441621.1:c.280+568_280+580del

N/A Intron Variant
RAB36 transcript variant X14 XM_047441622.1:c.446+568_…

XM_047441622.1:c.446+568_446+580del

N/A Intron Variant
RAB36 transcript variant X15 XM_047441623.1:c.599+568_…

XM_047441623.1:c.599+568_599+580del

N/A Intron Variant
RAB36 transcript variant X16 XM_011530552.3:c. N/A Genic Upstream Transcript Variant
Gene: RSPH14, radial spoke head 14 homolog (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RSPH14 transcript NM_014433.3:c. N/A Genic Upstream Transcript Variant
RSPH14 transcript variant X2 XM_017028774.2:c.-52-1323…

XM_017028774.2:c.-52-13233_-52-13221del

N/A Intron Variant
RSPH14 transcript variant X4 XM_011530149.3:c. N/A Genic Upstream Transcript Variant
RSPH14 transcript variant X1 XM_011530150.2:c. N/A Genic Upstream Transcript Variant
RSPH14 transcript variant X3 XM_011530151.3:c. N/A Genic Upstream Transcript Variant
RSPH14 transcript variant X6 XM_011530152.3:c. N/A Genic Upstream Transcript Variant
RSPH14 transcript variant X5 XM_011530154.3:c. N/A Genic Upstream Transcript Variant
RSPH14 transcript variant X7 XM_011530155.3:c. N/A Genic Upstream Transcript Variant
RSPH14 transcript variant X8 XM_047441334.1:c. N/A Genic Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
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Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (T)22= del(T)13 del(T)11 del(T)10 del(T)9 del(T)8 del(T)7 del(T)5 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)6 dup(T)7 dup(T)8 dup(T)9 dup(T)10
GRCh38.p14 chr 22 NC_000022.11:g.23153693_23153714= NC_000022.11:g.23153702_23153714del NC_000022.11:g.23153704_23153714del NC_000022.11:g.23153705_23153714del NC_000022.11:g.23153706_23153714del NC_000022.11:g.23153707_23153714del NC_000022.11:g.23153708_23153714del NC_000022.11:g.23153710_23153714del NC_000022.11:g.23153712_23153714del NC_000022.11:g.23153713_23153714del NC_000022.11:g.23153714del NC_000022.11:g.23153714dup NC_000022.11:g.23153713_23153714dup NC_000022.11:g.23153712_23153714dup NC_000022.11:g.23153711_23153714dup NC_000022.11:g.23153710_23153714dup NC_000022.11:g.23153709_23153714dup NC_000022.11:g.23153708_23153714dup NC_000022.11:g.23153707_23153714dup NC_000022.11:g.23153706_23153714dup NC_000022.11:g.23153705_23153714dup
GRCh37.p13 chr 22 NC_000022.10:g.23495880_23495901= NC_000022.10:g.23495889_23495901del NC_000022.10:g.23495891_23495901del NC_000022.10:g.23495892_23495901del NC_000022.10:g.23495893_23495901del NC_000022.10:g.23495894_23495901del NC_000022.10:g.23495895_23495901del NC_000022.10:g.23495897_23495901del NC_000022.10:g.23495899_23495901del NC_000022.10:g.23495900_23495901del NC_000022.10:g.23495901del NC_000022.10:g.23495901dup NC_000022.10:g.23495900_23495901dup NC_000022.10:g.23495899_23495901dup NC_000022.10:g.23495898_23495901dup NC_000022.10:g.23495897_23495901dup NC_000022.10:g.23495896_23495901dup NC_000022.10:g.23495895_23495901dup NC_000022.10:g.23495894_23495901dup NC_000022.10:g.23495893_23495901dup NC_000022.10:g.23495892_23495901dup
RAB36 transcript variant 1 NM_001349877.1:c.599+559= NM_001349877.1:c.599+568_599+580del NM_001349877.1:c.599+570_599+580del NM_001349877.1:c.599+571_599+580del NM_001349877.1:c.599+572_599+580del NM_001349877.1:c.599+573_599+580del NM_001349877.1:c.599+574_599+580del NM_001349877.1:c.599+576_599+580del NM_001349877.1:c.599+578_599+580del NM_001349877.1:c.599+579_599+580del NM_001349877.1:c.599+580del NM_001349877.1:c.599+580dup NM_001349877.1:c.599+579_599+580dup NM_001349877.1:c.599+578_599+580dup NM_001349877.1:c.599+577_599+580dup NM_001349877.1:c.599+576_599+580dup NM_001349877.1:c.599+575_599+580dup NM_001349877.1:c.599+574_599+580dup NM_001349877.1:c.599+573_599+580dup NM_001349877.1:c.599+572_599+580dup NM_001349877.1:c.599+571_599+580dup
RAB36 transcript variant 2 NM_001349878.1:c.527+559= NM_001349878.1:c.527+568_527+580del NM_001349878.1:c.527+570_527+580del NM_001349878.1:c.527+571_527+580del NM_001349878.1:c.527+572_527+580del NM_001349878.1:c.527+573_527+580del NM_001349878.1:c.527+574_527+580del NM_001349878.1:c.527+576_527+580del NM_001349878.1:c.527+578_527+580del NM_001349878.1:c.527+579_527+580del NM_001349878.1:c.527+580del NM_001349878.1:c.527+580dup NM_001349878.1:c.527+579_527+580dup NM_001349878.1:c.527+578_527+580dup NM_001349878.1:c.527+577_527+580dup NM_001349878.1:c.527+576_527+580dup NM_001349878.1:c.527+575_527+580dup NM_001349878.1:c.527+574_527+580dup NM_001349878.1:c.527+573_527+580dup NM_001349878.1:c.527+572_527+580dup NM_001349878.1:c.527+571_527+580dup
RAB36 transcript NM_004914.2:c.527+559= NM_004914.2:c.527+568_527+580del NM_004914.2:c.527+570_527+580del NM_004914.2:c.527+571_527+580del NM_004914.2:c.527+572_527+580del NM_004914.2:c.527+573_527+580del NM_004914.2:c.527+574_527+580del NM_004914.2:c.527+576_527+580del NM_004914.2:c.527+578_527+580del NM_004914.2:c.527+579_527+580del NM_004914.2:c.527+580del NM_004914.2:c.527+580dup NM_004914.2:c.527+579_527+580dup NM_004914.2:c.527+578_527+580dup NM_004914.2:c.527+577_527+580dup NM_004914.2:c.527+576_527+580dup NM_004914.2:c.527+575_527+580dup NM_004914.2:c.527+574_527+580dup NM_004914.2:c.527+573_527+580dup NM_004914.2:c.527+572_527+580dup NM_004914.2:c.527+571_527+580dup
RAB36 transcript variant 3 NM_004914.5:c.329+559= NM_004914.5:c.329+568_329+580del NM_004914.5:c.329+570_329+580del NM_004914.5:c.329+571_329+580del NM_004914.5:c.329+572_329+580del NM_004914.5:c.329+573_329+580del NM_004914.5:c.329+574_329+580del NM_004914.5:c.329+576_329+580del NM_004914.5:c.329+578_329+580del NM_004914.5:c.329+579_329+580del NM_004914.5:c.329+580del NM_004914.5:c.329+580dup NM_004914.5:c.329+579_329+580dup NM_004914.5:c.329+578_329+580dup NM_004914.5:c.329+577_329+580dup NM_004914.5:c.329+576_329+580dup NM_004914.5:c.329+575_329+580dup NM_004914.5:c.329+574_329+580dup NM_004914.5:c.329+573_329+580dup NM_004914.5:c.329+572_329+580dup NM_004914.5:c.329+571_329+580dup
RAB36 transcript variant X1 XM_005261859.1:c.599+559= XM_005261859.1:c.599+568_599+580del XM_005261859.1:c.599+570_599+580del XM_005261859.1:c.599+571_599+580del XM_005261859.1:c.599+572_599+580del XM_005261859.1:c.599+573_599+580del XM_005261859.1:c.599+574_599+580del XM_005261859.1:c.599+576_599+580del XM_005261859.1:c.599+578_599+580del XM_005261859.1:c.599+579_599+580del XM_005261859.1:c.599+580del XM_005261859.1:c.599+580dup XM_005261859.1:c.599+579_599+580dup XM_005261859.1:c.599+578_599+580dup XM_005261859.1:c.599+577_599+580dup XM_005261859.1:c.599+576_599+580dup XM_005261859.1:c.599+575_599+580dup XM_005261859.1:c.599+574_599+580dup XM_005261859.1:c.599+573_599+580dup XM_005261859.1:c.599+572_599+580dup XM_005261859.1:c.599+571_599+580dup
RAB36 transcript variant X2 XM_005261860.1:c.461+559= XM_005261860.1:c.461+568_461+580del XM_005261860.1:c.461+570_461+580del XM_005261860.1:c.461+571_461+580del XM_005261860.1:c.461+572_461+580del XM_005261860.1:c.461+573_461+580del XM_005261860.1:c.461+574_461+580del XM_005261860.1:c.461+576_461+580del XM_005261860.1:c.461+578_461+580del XM_005261860.1:c.461+579_461+580del XM_005261860.1:c.461+580del XM_005261860.1:c.461+580dup XM_005261860.1:c.461+579_461+580dup XM_005261860.1:c.461+578_461+580dup XM_005261860.1:c.461+577_461+580dup XM_005261860.1:c.461+576_461+580dup XM_005261860.1:c.461+575_461+580dup XM_005261860.1:c.461+574_461+580dup XM_005261860.1:c.461+573_461+580dup XM_005261860.1:c.461+572_461+580dup XM_005261860.1:c.461+571_461+580dup
RAB36 transcript variant X1 XM_006724381.5:c.599+559= XM_006724381.5:c.599+568_599+580del XM_006724381.5:c.599+570_599+580del XM_006724381.5:c.599+571_599+580del XM_006724381.5:c.599+572_599+580del XM_006724381.5:c.599+573_599+580del XM_006724381.5:c.599+574_599+580del XM_006724381.5:c.599+576_599+580del XM_006724381.5:c.599+578_599+580del XM_006724381.5:c.599+579_599+580del XM_006724381.5:c.599+580del XM_006724381.5:c.599+580dup XM_006724381.5:c.599+579_599+580dup XM_006724381.5:c.599+578_599+580dup XM_006724381.5:c.599+577_599+580dup XM_006724381.5:c.599+576_599+580dup XM_006724381.5:c.599+575_599+580dup XM_006724381.5:c.599+574_599+580dup XM_006724381.5:c.599+573_599+580dup XM_006724381.5:c.599+572_599+580dup XM_006724381.5:c.599+571_599+580dup
RAB36 transcript variant X2 XM_011530544.4:c.599+559= XM_011530544.4:c.599+568_599+580del XM_011530544.4:c.599+570_599+580del XM_011530544.4:c.599+571_599+580del XM_011530544.4:c.599+572_599+580del XM_011530544.4:c.599+573_599+580del XM_011530544.4:c.599+574_599+580del XM_011530544.4:c.599+576_599+580del XM_011530544.4:c.599+578_599+580del XM_011530544.4:c.599+579_599+580del XM_011530544.4:c.599+580del XM_011530544.4:c.599+580dup XM_011530544.4:c.599+579_599+580dup XM_011530544.4:c.599+578_599+580dup XM_011530544.4:c.599+577_599+580dup XM_011530544.4:c.599+576_599+580dup XM_011530544.4:c.599+575_599+580dup XM_011530544.4:c.599+574_599+580dup XM_011530544.4:c.599+573_599+580dup XM_011530544.4:c.599+572_599+580dup XM_011530544.4:c.599+571_599+580dup
RAB36 transcript variant X4 XM_011530545.3:c.599+559= XM_011530545.3:c.599+568_599+580del XM_011530545.3:c.599+570_599+580del XM_011530545.3:c.599+571_599+580del XM_011530545.3:c.599+572_599+580del XM_011530545.3:c.599+573_599+580del XM_011530545.3:c.599+574_599+580del XM_011530545.3:c.599+576_599+580del XM_011530545.3:c.599+578_599+580del XM_011530545.3:c.599+579_599+580del XM_011530545.3:c.599+580del XM_011530545.3:c.599+580dup XM_011530545.3:c.599+579_599+580dup XM_011530545.3:c.599+578_599+580dup XM_011530545.3:c.599+577_599+580dup XM_011530545.3:c.599+576_599+580dup XM_011530545.3:c.599+575_599+580dup XM_011530545.3:c.599+574_599+580dup XM_011530545.3:c.599+573_599+580dup XM_011530545.3:c.599+572_599+580dup XM_011530545.3:c.599+571_599+580dup
RAB36 transcript variant X5 XM_011530546.3:c.599+559= XM_011530546.3:c.599+568_599+580del XM_011530546.3:c.599+570_599+580del XM_011530546.3:c.599+571_599+580del XM_011530546.3:c.599+572_599+580del XM_011530546.3:c.599+573_599+580del XM_011530546.3:c.599+574_599+580del XM_011530546.3:c.599+576_599+580del XM_011530546.3:c.599+578_599+580del XM_011530546.3:c.599+579_599+580del XM_011530546.3:c.599+580del XM_011530546.3:c.599+580dup XM_011530546.3:c.599+579_599+580dup XM_011530546.3:c.599+578_599+580dup XM_011530546.3:c.599+577_599+580dup XM_011530546.3:c.599+576_599+580dup XM_011530546.3:c.599+575_599+580dup XM_011530546.3:c.599+574_599+580dup XM_011530546.3:c.599+573_599+580dup XM_011530546.3:c.599+572_599+580dup XM_011530546.3:c.599+571_599+580dup
RAB36 transcript variant X7 XM_011530547.3:c.446+559= XM_011530547.3:c.446+568_446+580del XM_011530547.3:c.446+570_446+580del XM_011530547.3:c.446+571_446+580del XM_011530547.3:c.446+572_446+580del XM_011530547.3:c.446+573_446+580del XM_011530547.3:c.446+574_446+580del XM_011530547.3:c.446+576_446+580del XM_011530547.3:c.446+578_446+580del XM_011530547.3:c.446+579_446+580del XM_011530547.3:c.446+580del XM_011530547.3:c.446+580dup XM_011530547.3:c.446+579_446+580dup XM_011530547.3:c.446+578_446+580dup XM_011530547.3:c.446+577_446+580dup XM_011530547.3:c.446+576_446+580dup XM_011530547.3:c.446+575_446+580dup XM_011530547.3:c.446+574_446+580dup XM_011530547.3:c.446+573_446+580dup XM_011530547.3:c.446+572_446+580dup XM_011530547.3:c.446+571_446+580dup
RAB36 transcript variant X13 XM_011530550.3:c.599+559= XM_011530550.3:c.599+568_599+580del XM_011530550.3:c.599+570_599+580del XM_011530550.3:c.599+571_599+580del XM_011530550.3:c.599+572_599+580del XM_011530550.3:c.599+573_599+580del XM_011530550.3:c.599+574_599+580del XM_011530550.3:c.599+576_599+580del XM_011530550.3:c.599+578_599+580del XM_011530550.3:c.599+579_599+580del XM_011530550.3:c.599+580del XM_011530550.3:c.599+580dup XM_011530550.3:c.599+579_599+580dup XM_011530550.3:c.599+578_599+580dup XM_011530550.3:c.599+577_599+580dup XM_011530550.3:c.599+576_599+580dup XM_011530550.3:c.599+575_599+580dup XM_011530550.3:c.599+574_599+580dup XM_011530550.3:c.599+573_599+580dup XM_011530550.3:c.599+572_599+580dup XM_011530550.3:c.599+571_599+580dup
RSPH14 transcript variant X2 XM_017028774.2:c.-52-13221= XM_017028774.2:c.-52-13233_-52-13221del XM_017028774.2:c.-52-13231_-52-13221del XM_017028774.2:c.-52-13230_-52-13221del XM_017028774.2:c.-52-13229_-52-13221del XM_017028774.2:c.-52-13228_-52-13221del XM_017028774.2:c.-52-13227_-52-13221del XM_017028774.2:c.-52-13225_-52-13221del XM_017028774.2:c.-52-13223_-52-13221del XM_017028774.2:c.-52-13222_-52-13221del XM_017028774.2:c.-52-13221del XM_017028774.2:c.-52-13221dup XM_017028774.2:c.-52-13222_-52-13221dup XM_017028774.2:c.-52-13223_-52-13221dup XM_017028774.2:c.-52-13224_-52-13221dup XM_017028774.2:c.-52-13225_-52-13221dup XM_017028774.2:c.-52-13226_-52-13221dup XM_017028774.2:c.-52-13227_-52-13221dup XM_017028774.2:c.-52-13228_-52-13221dup XM_017028774.2:c.-52-13229_-52-13221dup XM_017028774.2:c.-52-13230_-52-13221dup
RAB36 transcript variant X3 XM_017029104.2:c.518+559= XM_017029104.2:c.518+568_518+580del XM_017029104.2:c.518+570_518+580del XM_017029104.2:c.518+571_518+580del XM_017029104.2:c.518+572_518+580del XM_017029104.2:c.518+573_518+580del XM_017029104.2:c.518+574_518+580del XM_017029104.2:c.518+576_518+580del XM_017029104.2:c.518+578_518+580del XM_017029104.2:c.518+579_518+580del XM_017029104.2:c.518+580del XM_017029104.2:c.518+580dup XM_017029104.2:c.518+579_518+580dup XM_017029104.2:c.518+578_518+580dup XM_017029104.2:c.518+577_518+580dup XM_017029104.2:c.518+576_518+580dup XM_017029104.2:c.518+575_518+580dup XM_017029104.2:c.518+574_518+580dup XM_017029104.2:c.518+573_518+580dup XM_017029104.2:c.518+572_518+580dup XM_017029104.2:c.518+571_518+580dup
RAB36 transcript variant X8 XM_017029105.2:c.446+559= XM_017029105.2:c.446+568_446+580del XM_017029105.2:c.446+570_446+580del XM_017029105.2:c.446+571_446+580del XM_017029105.2:c.446+572_446+580del XM_017029105.2:c.446+573_446+580del XM_017029105.2:c.446+574_446+580del XM_017029105.2:c.446+576_446+580del XM_017029105.2:c.446+578_446+580del XM_017029105.2:c.446+579_446+580del XM_017029105.2:c.446+580del XM_017029105.2:c.446+580dup XM_017029105.2:c.446+579_446+580dup XM_017029105.2:c.446+578_446+580dup XM_017029105.2:c.446+577_446+580dup XM_017029105.2:c.446+576_446+580dup XM_017029105.2:c.446+575_446+580dup XM_017029105.2:c.446+574_446+580dup XM_017029105.2:c.446+573_446+580dup XM_017029105.2:c.446+572_446+580dup XM_017029105.2:c.446+571_446+580dup
RAB36 transcript variant X12 XM_017029107.2:c.280+559= XM_017029107.2:c.280+568_280+580del XM_017029107.2:c.280+570_280+580del XM_017029107.2:c.280+571_280+580del XM_017029107.2:c.280+572_280+580del XM_017029107.2:c.280+573_280+580del XM_017029107.2:c.280+574_280+580del XM_017029107.2:c.280+576_280+580del XM_017029107.2:c.280+578_280+580del XM_017029107.2:c.280+579_280+580del XM_017029107.2:c.280+580del XM_017029107.2:c.280+580dup XM_017029107.2:c.280+579_280+580dup XM_017029107.2:c.280+578_280+580dup XM_017029107.2:c.280+577_280+580dup XM_017029107.2:c.280+576_280+580dup XM_017029107.2:c.280+575_280+580dup XM_017029107.2:c.280+574_280+580dup XM_017029107.2:c.280+573_280+580dup XM_017029107.2:c.280+572_280+580dup XM_017029107.2:c.280+571_280+580dup
RAB36 transcript variant X6 XM_047441618.1:c.518+559= XM_047441618.1:c.518+568_518+580del XM_047441618.1:c.518+570_518+580del XM_047441618.1:c.518+571_518+580del XM_047441618.1:c.518+572_518+580del XM_047441618.1:c.518+573_518+580del XM_047441618.1:c.518+574_518+580del XM_047441618.1:c.518+576_518+580del XM_047441618.1:c.518+578_518+580del XM_047441618.1:c.518+579_518+580del XM_047441618.1:c.518+580del XM_047441618.1:c.518+580dup XM_047441618.1:c.518+579_518+580dup XM_047441618.1:c.518+578_518+580dup XM_047441618.1:c.518+577_518+580dup XM_047441618.1:c.518+576_518+580dup XM_047441618.1:c.518+575_518+580dup XM_047441618.1:c.518+574_518+580dup XM_047441618.1:c.518+573_518+580dup XM_047441618.1:c.518+572_518+580dup XM_047441618.1:c.518+571_518+580dup
RAB36 transcript variant X9 XM_047441619.1:c.599+559= XM_047441619.1:c.599+568_599+580del XM_047441619.1:c.599+570_599+580del XM_047441619.1:c.599+571_599+580del XM_047441619.1:c.599+572_599+580del XM_047441619.1:c.599+573_599+580del XM_047441619.1:c.599+574_599+580del XM_047441619.1:c.599+576_599+580del XM_047441619.1:c.599+578_599+580del XM_047441619.1:c.599+579_599+580del XM_047441619.1:c.599+580del XM_047441619.1:c.599+580dup XM_047441619.1:c.599+579_599+580dup XM_047441619.1:c.599+578_599+580dup XM_047441619.1:c.599+577_599+580dup XM_047441619.1:c.599+576_599+580dup XM_047441619.1:c.599+575_599+580dup XM_047441619.1:c.599+574_599+580dup XM_047441619.1:c.599+573_599+580dup XM_047441619.1:c.599+572_599+580dup XM_047441619.1:c.599+571_599+580dup
RAB36 transcript variant X10 XM_047441620.1:c.599+559= XM_047441620.1:c.599+568_599+580del XM_047441620.1:c.599+570_599+580del XM_047441620.1:c.599+571_599+580del XM_047441620.1:c.599+572_599+580del XM_047441620.1:c.599+573_599+580del XM_047441620.1:c.599+574_599+580del XM_047441620.1:c.599+576_599+580del XM_047441620.1:c.599+578_599+580del XM_047441620.1:c.599+579_599+580del XM_047441620.1:c.599+580del XM_047441620.1:c.599+580dup XM_047441620.1:c.599+579_599+580dup XM_047441620.1:c.599+578_599+580dup XM_047441620.1:c.599+577_599+580dup XM_047441620.1:c.599+576_599+580dup XM_047441620.1:c.599+575_599+580dup XM_047441620.1:c.599+574_599+580dup XM_047441620.1:c.599+573_599+580dup XM_047441620.1:c.599+572_599+580dup XM_047441620.1:c.599+571_599+580dup
RAB36 transcript variant X11 XM_047441621.1:c.280+559= XM_047441621.1:c.280+568_280+580del XM_047441621.1:c.280+570_280+580del XM_047441621.1:c.280+571_280+580del XM_047441621.1:c.280+572_280+580del XM_047441621.1:c.280+573_280+580del XM_047441621.1:c.280+574_280+580del XM_047441621.1:c.280+576_280+580del XM_047441621.1:c.280+578_280+580del XM_047441621.1:c.280+579_280+580del XM_047441621.1:c.280+580del XM_047441621.1:c.280+580dup XM_047441621.1:c.280+579_280+580dup XM_047441621.1:c.280+578_280+580dup XM_047441621.1:c.280+577_280+580dup XM_047441621.1:c.280+576_280+580dup XM_047441621.1:c.280+575_280+580dup XM_047441621.1:c.280+574_280+580dup XM_047441621.1:c.280+573_280+580dup XM_047441621.1:c.280+572_280+580dup XM_047441621.1:c.280+571_280+580dup
RAB36 transcript variant X14 XM_047441622.1:c.446+559= XM_047441622.1:c.446+568_446+580del XM_047441622.1:c.446+570_446+580del XM_047441622.1:c.446+571_446+580del XM_047441622.1:c.446+572_446+580del XM_047441622.1:c.446+573_446+580del XM_047441622.1:c.446+574_446+580del XM_047441622.1:c.446+576_446+580del XM_047441622.1:c.446+578_446+580del XM_047441622.1:c.446+579_446+580del XM_047441622.1:c.446+580del XM_047441622.1:c.446+580dup XM_047441622.1:c.446+579_446+580dup XM_047441622.1:c.446+578_446+580dup XM_047441622.1:c.446+577_446+580dup XM_047441622.1:c.446+576_446+580dup XM_047441622.1:c.446+575_446+580dup XM_047441622.1:c.446+574_446+580dup XM_047441622.1:c.446+573_446+580dup XM_047441622.1:c.446+572_446+580dup XM_047441622.1:c.446+571_446+580dup
RAB36 transcript variant X15 XM_047441623.1:c.599+559= XM_047441623.1:c.599+568_599+580del XM_047441623.1:c.599+570_599+580del XM_047441623.1:c.599+571_599+580del XM_047441623.1:c.599+572_599+580del XM_047441623.1:c.599+573_599+580del XM_047441623.1:c.599+574_599+580del XM_047441623.1:c.599+576_599+580del XM_047441623.1:c.599+578_599+580del XM_047441623.1:c.599+579_599+580del XM_047441623.1:c.599+580del XM_047441623.1:c.599+580dup XM_047441623.1:c.599+579_599+580dup XM_047441623.1:c.599+578_599+580dup XM_047441623.1:c.599+577_599+580dup XM_047441623.1:c.599+576_599+580dup XM_047441623.1:c.599+575_599+580dup XM_047441623.1:c.599+574_599+580dup XM_047441623.1:c.599+573_599+580dup XM_047441623.1:c.599+572_599+580dup XM_047441623.1:c.599+571_599+580dup
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

44 SubSNP, 31 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95754743 Feb 13, 2009 (137)
2 PJP ss295073167 May 09, 2011 (135)
3 EVA_GENOME_DK ss1575814140 Apr 01, 2015 (144)
4 EVA_UK10K_ALSPAC ss1709550217 Apr 01, 2015 (144)
5 EVA_UK10K_ALSPAC ss1709550219 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1709550318 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1709550321 Apr 01, 2015 (144)
8 SWEGEN ss3019140489 Nov 08, 2017 (151)
9 EVA ss3835939588 Apr 27, 2020 (154)
10 GNOMAD ss4362952467 Apr 27, 2021 (155)
11 GNOMAD ss4362952468 Apr 27, 2021 (155)
12 GNOMAD ss4362952469 Apr 27, 2021 (155)
13 GNOMAD ss4362952470 Apr 27, 2021 (155)
14 GNOMAD ss4362952471 Apr 27, 2021 (155)
15 GNOMAD ss4362952472 Apr 27, 2021 (155)
16 GNOMAD ss4362952473 Apr 27, 2021 (155)
17 GNOMAD ss4362952474 Apr 27, 2021 (155)
18 GNOMAD ss4362952476 Apr 27, 2021 (155)
19 GNOMAD ss4362952477 Apr 27, 2021 (155)
20 GNOMAD ss4362952478 Apr 27, 2021 (155)
21 GNOMAD ss4362952479 Apr 27, 2021 (155)
22 GNOMAD ss4362952480 Apr 27, 2021 (155)
23 TOPMED ss5105864697 Apr 27, 2021 (155)
24 TOMMO_GENOMICS ss5232173779 Apr 27, 2021 (155)
25 TOMMO_GENOMICS ss5232173780 Apr 27, 2021 (155)
26 TOMMO_GENOMICS ss5232173781 Apr 27, 2021 (155)
27 TOMMO_GENOMICS ss5232173782 Apr 27, 2021 (155)
28 TOMMO_GENOMICS ss5232173783 Apr 27, 2021 (155)
29 TOMMO_GENOMICS ss5232173784 Apr 27, 2021 (155)
30 1000G_HIGH_COVERAGE ss5310753738 Oct 16, 2022 (156)
31 1000G_HIGH_COVERAGE ss5310753739 Oct 16, 2022 (156)
32 1000G_HIGH_COVERAGE ss5310753740 Oct 16, 2022 (156)
33 1000G_HIGH_COVERAGE ss5310753741 Oct 16, 2022 (156)
34 HUGCELL_USP ss5502635917 Oct 16, 2022 (156)
35 HUGCELL_USP ss5502635918 Oct 16, 2022 (156)
36 HUGCELL_USP ss5502635919 Oct 16, 2022 (156)
37 HUGCELL_USP ss5502635920 Oct 16, 2022 (156)
38 TOMMO_GENOMICS ss5793153260 Oct 16, 2022 (156)
39 TOMMO_GENOMICS ss5793153261 Oct 16, 2022 (156)
40 TOMMO_GENOMICS ss5793153262 Oct 16, 2022 (156)
41 TOMMO_GENOMICS ss5793153263 Oct 16, 2022 (156)
42 EVA ss5821935103 Oct 16, 2022 (156)
43 EVA ss5821935104 Oct 16, 2022 (156)
44 EVA ss5821935105 Oct 16, 2022 (156)
45 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 44427472 (NC_000022.10:23495879::TT 1816/3854)
Row 44427473 (NC_000022.10:23495879::TTT 1542/3854)

- Oct 12, 2018 (152)
46 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 44427472 (NC_000022.10:23495879::TT 1816/3854)
Row 44427473 (NC_000022.10:23495879::TTT 1542/3854)

- Oct 12, 2018 (152)
47 The Danish reference pan genome NC_000022.10 - 23495880 Apr 27, 2020 (154)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 567208268 (NC_000022.11:23153692::T 1515/83704)
Row 567208269 (NC_000022.11:23153692::TTTT 713/83714)
Row 567208270 (NC_000022.11:23153692::TTTTT 94/83750)...

- Apr 27, 2021 (155)
62 8.3KJPN

Submission ignored due to conflicting rows:
Row 90143086 (NC_000022.10:23495879::TT 5610/15440)
Row 90143087 (NC_000022.10:23495879::TTT 122/15440)
Row 90143088 (NC_000022.10:23495879::T 167/15440)...

- Apr 27, 2021 (155)
63 8.3KJPN

Submission ignored due to conflicting rows:
Row 90143086 (NC_000022.10:23495879::TT 5610/15440)
Row 90143087 (NC_000022.10:23495879::TTT 122/15440)
Row 90143088 (NC_000022.10:23495879::T 167/15440)...

- Apr 27, 2021 (155)
64 8.3KJPN

Submission ignored due to conflicting rows:
Row 90143086 (NC_000022.10:23495879::TT 5610/15440)
Row 90143087 (NC_000022.10:23495879::TTT 122/15440)
Row 90143088 (NC_000022.10:23495879::T 167/15440)...

- Apr 27, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 90143086 (NC_000022.10:23495879::TT 5610/15440)
Row 90143087 (NC_000022.10:23495879::TTT 122/15440)
Row 90143088 (NC_000022.10:23495879::T 167/15440)...

- Apr 27, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 90143086 (NC_000022.10:23495879::TT 5610/15440)
Row 90143087 (NC_000022.10:23495879::TTT 122/15440)
Row 90143088 (NC_000022.10:23495879::T 167/15440)...

- Apr 27, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 90143086 (NC_000022.10:23495879::TT 5610/15440)
Row 90143087 (NC_000022.10:23495879::TTT 122/15440)
Row 90143088 (NC_000022.10:23495879::T 167/15440)...

- Apr 27, 2021 (155)
68 14KJPN

Submission ignored due to conflicting rows:
Row 126990364 (NC_000022.11:23153692::TT 8618/24334)
Row 126990365 (NC_000022.11:23153692::TTT 147/24334)
Row 126990366 (NC_000022.11:23153692::T 231/24334)...

- Oct 16, 2022 (156)
69 14KJPN

Submission ignored due to conflicting rows:
Row 126990364 (NC_000022.11:23153692::TT 8618/24334)
Row 126990365 (NC_000022.11:23153692::TTT 147/24334)
Row 126990366 (NC_000022.11:23153692::T 231/24334)...

- Oct 16, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 126990364 (NC_000022.11:23153692::TT 8618/24334)
Row 126990365 (NC_000022.11:23153692::TTT 147/24334)
Row 126990366 (NC_000022.11:23153692::T 231/24334)...

- Oct 16, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 126990364 (NC_000022.11:23153692::TT 8618/24334)
Row 126990365 (NC_000022.11:23153692::TTT 147/24334)
Row 126990366 (NC_000022.11:23153692::T 231/24334)...

- Oct 16, 2022 (156)
72 TopMed NC_000022.11 - 23153693 Apr 27, 2021 (155)
73 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 44427472 (NC_000022.10:23495879::TT 1786/3708)
Row 44427473 (NC_000022.10:23495879::TTT 1401/3708)

- Oct 12, 2018 (152)
74 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 44427472 (NC_000022.10:23495879::TT 1786/3708)
Row 44427473 (NC_000022.10:23495879::TTT 1401/3708)

- Oct 12, 2018 (152)
75 ALFA NC_000022.11 - 23153693 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs68189366 May 11, 2012 (137)
rs68189367 Feb 27, 2009 (130)
rs71200837 May 11, 2012 (137)
rs71714453 May 11, 2012 (137)
rs145490395 Sep 17, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
ss4362952480 NC_000022.11:23153692:TTTTTTTTTTT: NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
380973644, ss4362952479, ss5105864697 NC_000022.11:23153692:TTTTTTTTT: NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4362952478 NC_000022.11:23153692:TTTTTTTT: NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4362952477 NC_000022.11:23153692:TTTTT: NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4362952476 NC_000022.11:23153692:TT: NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3019140489, ss5232173784 NC_000022.10:23495879:T: NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss5310753738, ss5502635917 NC_000022.11:23153692:T: NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss5232173781 NC_000022.10:23495879::T NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4362952467, ss5310753740, ss5502635920, ss5793153262 NC_000022.11:23153692::T NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss295073167 NC_000022.9:21825880::TT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
789605, ss1575814140, ss1709550217, ss1709550318, ss3835939588, ss5232173779, ss5821935103 NC_000022.10:23495879::TT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5502635918, ss5793153260 NC_000022.11:23153692::TT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss95754743 NT_011520.12:2886470::TT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss1709550219, ss1709550321, ss5232173780, ss5821935104 NC_000022.10:23495879::TTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5310753739, ss5502635919, ss5793153261 NC_000022.11:23153692::TTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5232173782, ss5821935105 NC_000022.10:23495879::TTTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4362952468, ss5310753741, ss5793153263 NC_000022.11:23153692::TTTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5232173783 NC_000022.10:23495879::TTTTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4362952469 NC_000022.11:23153692::TTTTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4362952470 NC_000022.11:23153692::TTTTTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4362952471 NC_000022.11:23153692::TTTTTTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4362952472 NC_000022.11:23153692::TTTTTTTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4362952473 NC_000022.11:23153692::TTTTTTTTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6719766868 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4362952474 NC_000022.11:23153692::TTTTTTTTTT NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3374681756 NC_000022.11:23153692:TTT: NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

ss3374681760 NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTT:

NC_000022.11:23153692:TTTTTTTTTTTT…

NC_000022.11:23153692:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs66463289

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d